Database IRAK4base
Version 1.1
File irak4pub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/IRAK4base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF117.html
Gene IRAK4
Disease IRAK4 deficiency
OMIM 606883
GDB 11510556
Sequence IDRefSeq:D0051; IDRefSeq:C0051; UniProt:Q8TDF7
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R12C(1),R391H(1),Intron 7(1); standard; MUTATION;
Accession I0015
Systematic name Allele 1: g.11082C>T, c.34C>T, r.34c>u, p.Arg12Cys
Systematic name Allele 1: g.26645G>A, c.1172G>A, r.1172g>a, p.Arg391His
Systematic name Allele 2: g.IVS7+5G>T, c.831+5G>T, r.831+5g>u
Original code patient
Description Allele 1: Point mutations in the exons 2 and 10 leading to
Description amino acid changes
Description Allele 2: A point mutation in the intron 7 leading to an
Description amino acid change
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17878374
RefAuthors Hoarau, C., Gerard, B., Lescanne, E., Henry, D., Franxois,
RefAuthors S., Lacapere, J. J., El Benna, J., Dang, P. M.,
RefAuthors Grandchamp, B., Lebranchu, Y., Gougerot-Pocidalo, M. A.,
RefAuthors Elbim, C.
RefTitle TLR9 activation induces normal neutrophil responses in a
RefTitle child with IRAK-4 deficiency: involvement of the direct
RefTitle PI3K pathway.
RefLoc J Immunol:4754-4765 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 11082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 83
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 12
Feature /change: R -> C
FeatureHeader allele; 1
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 26645
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 1221
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 391
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0051: 20686
Feature /change: g -> t
Feature /genomic_region: intron; 7
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 9
Feature /rnalink: 8
Feature /name: unknown
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; retroauricular cellulitis,
Symptoms cervical adenitis
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; severe necrotic infection of
Symptoms palate
Symptoms Other; asthma and common verrucas
Age 0,9
Sex XY
Parents Non-consanguineous
IgA 1,27
IgG 12,08
IgM 1,38
//
ID @P42X45(1a),@P42X45(1a); standard; MUTATION;
Accession I0007
Systematic name Allele 1 and 2: g.11171dupA, c.123dupA, r.123dupa,
Systematic name p.Pro42fsX4
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 08-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16647421
RefAuthors Takada, H., Yoshikawa, H., Imaizumi, M., Kitamura, T.,
RefAuthors Takeyama, J., Kumaki, S., Nomura, A., Hara, T.
RefTitle Delayed separation of the umbilical cord in two siblings
RefTitle with interleukin-1 receptor-associated kinase 4
RefTitle deficiency: rapid screening by flow cytometer.
RefLoc J Pediatr:546-548 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0051: 11172
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 173
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 42
Feature /change: P -> TIWX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0051: 11172
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 173
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 42
Feature /change: P -> TIWX
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Streptococcus pneumoniae; meningitis and arthritisof the
Symptoms left hip joint
Age 2
Sex XY
Parents Non-consanguineous
Relative IRAK4base; I0008 brother
Comment Despite intensive therapies against meningitis, severe
Comment brain edema and disseminated intravascular coagulation led
Comment to death 25 days after admission.
//
ID @P42X45(1b),@P42X45(1b); standard; MUTATION;
Accession I0008
Systematic name Allele 1 and 2: g.11171dupA, c.123dupA, r.123dupa,
Systematic name p.Pro42fsX4
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 08-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16647421
RefAuthors Takada, H., Yoshikawa, H., Imaizumi, M., Kitamura, T.,
RefAuthors Takeyama, J., Kumaki, S., Nomura, A., Hara, T.
RefTitle Delayed separation of the umbilical cord in two siblings
RefTitle with interleukin-1 receptor-associated kinase 4
RefTitle deficiency: rapid screening by flow cytometer.
RefLoc J Pediatr:546-548 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0051: 11172
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 173
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 42
Feature /change: P -> TIWX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0051: 11172
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 173
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 42
Feature /change: P -> TIWX
Sex XY
Parents Non-consanguineous
Relative IRAK4base; I0007 brother
Comment Younger brother of I0007. No apparent infection at 5 months
Comment after birth.
//
ID Y48X(1),#A211X212(1); standard; MUTATION; ,PK
Accession I0023
Systematic name Allele 1: g.11192C>G, c.144C>G, r.144c>g, p.Tyr48X
Systematic name Allele 2: g.15989delG, c.631delG, r.631delg, p.Ala211fsX2
Original code P.23
Description Allele 1: A point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 11192
Feature /change: c -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 193
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 48
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 15989
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 680
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 211
Feature /change: A -> QX
Feature /domain: PK
Age 2
Sex XX
Ethnic origin Canada
//
ID #N175X205(1),#N175X205(1); standard; MUTATION;
Accession I0005
Systematic name Allele 1 and 2: g.15882delA, c.524delA, r.524dela,
Systematic name p.Asn175fsX31
Original code Patient 2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 04-Jan-2005 (Rel. 1, Created)
Date 04-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15520784
RefAuthors Enders, A., Pannicke, U., Berner, R., Henneke, P.,
RefAuthors Radlinger, K., Schwarz, K., Ehl, S.
RefTitle Two siblings with lethal pneumococcal meningitis in a
RefTitle family with a mutation in interleukin-1 receptor-
RefTitle associated kinase 4.
RefLoc J Pediatr 145:698-700 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 15882
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 573
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 175
Feature /change: N -> MSQITLMNDP FLLVVIKWER EDLELYIKAT X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 15882
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 573
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 175
Feature /change: N -> MSQITLMNDP FLLVVIKWER EDLELYIKAT X
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Streptococcus pneumoniae
Symptoms Other bacterial infections:
Symptoms Other; unilateral cervical lymphadenopathy
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative the clinical phenotype of the patient's deceased brother
Relative suggests that he was also homozygous for the deletion
Relative (mutation not confirmed)
Comment patient died of refractory brain edema 16 days after
Comment admission
//
ID #N207X219(1),Q293X(3); standard; MUTATION; PK,PK
Accession I0004
Systematic name Allele 1: g.15978_15979delAC, c.620_621delAC,
Systematic name r.620_621delac, p.Thr208fsX12
Systematic name Allele 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code 21-yr-old woman
Description Allele 1: a frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the PK domain
Description Allele 2: a point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 30-Sep-2003 (Rel. 1, Created)
Date 30-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12925671
RefAuthors Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J.
RefAuthors C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I.,
RefAuthors Vogel, S. N.
RefTitle Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to
RefTitle lipopolysaccharide and interleukin-1 in a patient with
RefTitle recurrent bacterial infections.
RefLoc J Exp Med 198:521-531 (2003)
RefNumber [2]
RefCrossRef PUBMED; 9103466
RefAuthors Kuhns, D. B., Long Priel, D. A., Gallin, J. I.
RefTitle Endotoxin and IL-1 hyporesponsiveness in a patient with
RefTitle recurrent bacterial infections.
RefLoc J Immunol 158:3959-3964 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 15978..15979
Feature /change: -ac
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 669..670
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 207
Feature /change: N -> NNCGSEEACS NGX
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; cellulitis
Symptoms Streptococcus pneumoniae; meningitis
Symptoms Other bacterial infections:
Symptoms Other; endophthalmitis with Neisseria meningitidis,
Symptoms serous otitis media, an abdominal abscess with gram-
Symptoms positive diplococci, Clostridium septicum infection
Symptoms with gangrene of the left leg, Streptococcus
Symptoms intermedicus, Gemella morbillorum
Sex XX
Parents Non-consanguineous
//
ID #N207X219(2),Q293X(8); standard; MUTATION; PK,PK
Accession I0019
Systematic name Allele 1: g.15978_15979delAC, c.620_621delAC,
Systematic name r.620_621delac, p.Thr208fsX12
Systematic name Allele 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.22
Description Allele 1: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the PK domain
Description Allele 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 15978..15979
Feature /change: -ac
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 669..670
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 207
Feature /change: N -> NNCGSEEACS NGX
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 10
Sex XY
Ethnic origin USA
//
ID #L274X287(1),#L274X287(1); standard; MUTATION; PK,PK
Accession I0001
Systematic name Allele 1 and 2: g.20671delT, c.821delT, r.821delu,
Systematic name p.Leu274fsX14
Original code P1
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon in the PK domain
Date 09-Jun-2003 (Rel. 1, Created)
Date 09-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12637671
RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante,
RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J.,
RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies,
RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R.,
RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S.,
RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A.,
RefAuthors Ozinsky, A., Casanova, J. L.
RefTitle Pyogenic bacterial infections in humans with IRAK-4
RefTitle deficiency.
RefLoc Science 299:2076-2079 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 20671
Feature /change: -t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 870
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 274
Feature /change: L -> PLAWMVLHHF LGTX
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0051: 20671
Feature /change: -t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0051: 870
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 274
Feature /change: L -> PLAWMVLHHF LGTX
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; recurrent skin infections
Symptoms (between 1 and 4 years of age), cellulitis of the
Symptoms abdominal wall (1 year) and liver abscess (4 years)
Symptoms Streptococcus pneumoniae; arthritis (2 years of age)
Sex XY
Ethnic origin Caucasoid; Saudi Arabia
Parents Consanguineous
//
ID Q293X(1),Q293X(1); standard; MUTATION; PK,PK
Accession I0002
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P2
Description Allele 1 and 2: point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 09-Jun-2003 (Rel. 1, Created)
Date 09-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12637671
RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante,
RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J.,
RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies,
RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R.,
RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S.,
RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A.,
RefAuthors Ozinsky, A., Casanova, J. L.
RefTitle Pyogenic bacterial infections in humans with IRAK-4
RefTitle deficiency.
RefLoc Science 299:2076-2079 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; septicemia and osteomyelitis (10
Symptoms days of age), recurrent furonculosis (between 5 and 10
Symptoms years of age)
Symptoms Streptococcus pneumoniae; meningitis (6 months),
Symptoms osteomyelitis (8 months), arthritis (1 year)
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; acute otitis media
Sex XY
Ethnic origin Caucasoid; Portugal
//
ID Q293X(2),Q293X(2); standard; MUTATION; PK,PK
Accession I0003
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P3
Description Allele 1 and 2: point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 09-Jun-2003 (Rel. 1, Created)
Date 09-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12637671
RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante,
RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J.,
RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies,
RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al-
RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R.,
RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S.,
RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A.,
RefAuthors Ozinsky, A., Casanova, J. L.
RefTitle Pyogenic bacterial infections in humans with IRAK-4
RefTitle deficiency.
RefLoc Science 299:2076-2079 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; buccal cellulitis (1 month) and
Symptoms severe impetigo (10 months)
Symptoms Streptococcus pneumoniae; septicemia and pneumonia (11
Symptoms months), arthritis (13 months), cellulitis (15 months),
Symptoms lymphadenitis (25 months)
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; recurrent sinusitis
Symptoms Escherichia coli; pyelonephritis (4 years)
Symptoms Stenotrophomonas maltophilia; recurrent sinusitis
Symptoms Serratia marcescens; recurrent sinusitis
Sex XX
Ethnic origin Caucasoid; USA
Parents Consanguineous
//
ID Q293X(4),Q293X(4); standard; MUTATION; PK,PK
Accession I0006
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 08-Sep-2006 (Rel. 1, Created)
Date 08-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15825022
RefAuthors Chapel, H., Puel, A., von Bernuth, H., Picard, C.,
RefAuthors Casanova, J. L.
RefTitle Shigella sonnei meningitis due to interleukin-1 receptor-
RefTitle associated kinase-4 deficiency: first association with a
RefTitle primary immune deficiency.
RefLoc Clin Infect Dis:1227-1231 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; abscesses
Symptoms Streptococcus pneumoniae; septic arthritis
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; abscesses
Symptoms Other; Shigella sonnei meningitis, Streptococcus pyogenes
Symptoms abscesses
Sex XX
Ethnic origin Caucasoid; England
Parents Non-consanguineous
//
ID Q293X(5a),Q293X(5a); standard; MUTATION; PK,PK
Accession I0012
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P1
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17544092
RefAuthors Lavine, E., Somech, R., Zhang, J. Y., Puel, A., Bossuyt,
RefAuthors X., Picard, C., Casanova, J. L., Roifman, C. M.
RefTitle Cellular and humoral aberrations in a kindred with IL-1
RefTitle receptor-associated kinase 4 deficiency.
RefLoc J Allergy Clin Immunol:948-950 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; meningitis
Age 0
Sex XX
Ethnic origin Caucasoid; England
Parents Non-consanguineous
Relative IRAK4base; I0013brother
Relative IRAK4base; I0014brother
//
ID Q293X(5b),Q293X(5b); standard; MUTATION; PK,PK
Accession I0013
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P2
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17544092
RefAuthors Lavine, E., Somech, R., Zhang, J. Y., Puel, A., Bossuyt,
RefAuthors X., Picard, C., Casanova, J. L., Roifman, C. M.
RefTitle Cellular and humoral aberrations in a kindred with IL-1
RefTitle receptor-associated kinase 4 deficiency.
RefLoc J Allergy Clin Immunol:948-950 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Streptococcus pneumoniae; meningitis
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; necrotizing epiglottilis
Age 2
Sex XY
Ethnic origin Caucasoid; England
Parents Non-consanguineous
Relative IRAK4base; I0012sister
Relative IRAK4base; I0014twinbrother
IgA 0,3
IgG 15
IgM 1,3
//
ID Q293X(5c),Q293X(5c); standard; MUTATION; PK,PK
Accession I0014
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P3
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 19-May-2008 (Rel. 1, Created)
Date 19-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17544092
RefAuthors Lavine, E., Somech, R., Zhang, J. Y., Puel, A., Bossuyt,
RefAuthors X., Picard, C., Casanova, J. L., Roifman, C. M.
RefTitle Cellular and humoral aberrations in a kindred with IL-1
RefTitle receptor-associated kinase 4 deficiency.
RefLoc J Allergy Clin Immunol:948-950 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Streptococcus pneumoniae; Meningitis, septic arthritis.
Symptoms Bilateral tonsilar, brain and abdominal abcesses.
Symptoms Other bacterial infections:
Symptoms Other; Mycobacterium avium infection.
Age 0,9
Sex XY
Ethnic origin Caucasoid; England
Parents Non-consanguineous
Relative IRAK4base; I0012sister
Relative IRAK4base; I0013twinbrother
IgA 0,6
IgG 13
IgM 1,5
//
ID Q293X(6),?; standard; MUTATION; PK,?
Accession I0016
Systematic name Allele 1: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Systematic name Allele 2: Unknown
Original code Case.2
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Description Allele 2: Unknown
Date 22-Jun-2010 (Rel. 1, Created)
Date 22-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19841577
RefAuthors Hsu, A. P., Fleisher, T. A., Niemela, J. E.
RefTitle Mutation analysis in primary immunodeficiency diseases:
RefTitle case studies.
RefLoc Curr Opin Allergy Clin Immunol:517-524 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other bacterial infections:
Symptoms pyogenic bacteria
Age 8
Sex XX
Comment Patient's maternal allele is not expressed at the RNA
Comment level
//
ID Q293X(7a),Q293X(7a); standard; MUTATION; PK,PK
Accession I0017
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.9
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 6
Sex XY
Ethnic origin Canada
Relative IRAK4base; I0018 brother
Comment Patient died.
//
ID Q293X(7b),Q293X(7b); standard; MUTATION; PK,PK
Accession I0018
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.10
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 7
Sex XY
Ethnic origin Canada
Relative IRAK4base; I0017 brother
//
ID Q293X(9a),Q293X(9a); standard; MUTATION; PK,PK
Accession I0020
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.25
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 4 mo
Sex XX
Ethnic origin Australia
Relative IRAK4base; I0021 sister
Comment Patient died.
//
ID Q293X(9a),Q293X(9a); standard; MUTATION; PK,PK
Accession I0021
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.26
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 6 mo
Sex XX
Ethnic origin Australia
Relative IRAK4base; I0020 sister
Comment Patient died.
//
ID Q293X(10),Q293X(10); standard; MUTATION; PK,PK
Accession I0022
Systematic name Allele 1 and 2: g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Original code P.27
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17893200
RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y.,
RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C.,
RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman,
RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O.,
RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H.,
RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D.,
RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi,
RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C.,
RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle Selective predisposition to bacterial infections in IRAK-4-
RefTitle deficient children: IRAK-4-dependent TLRs are otherwise
RefTitle redundant in protective immunity.
RefLoc J Exp Med:2407-2422 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 21175
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051; GI:5360130; IRAK4C: 926
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 293
Feature /change: Q -> X
Feature /domain: PK
Age 11
Sex XX
Ethnic origin USA
//
ID E402X(1a),E402X(1a); standard; MUTATION;
Accession I0009
Systematic name Allele 1 and 2: g.29351G>T, c.1204G>T, r.1204g>u,
Systematic name p.Glu402X
Original code Propand
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description a premature stop codon
Date 11-Sep-2006 (Rel. 1, Created)
Date 11-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16647422
RefAuthors Cardenes, M., von Bernuth, H., Garcia-Saavedra, A.,
RefAuthors Santiago, E., Puel, A., Ku, C. L., Emile, J. F., Picard,
RefAuthors C., Casanova, J. L., Colino, E., Bordes, A., Garfia, A.,
RefAuthors Rodriguez-Gallego, C.
RefTitle Autosomal recessive interleukin-1 receptor-associated
RefTitle kinase 4 deficiency in fourth-degree relatives.
RefLoc J Pediatr:549-551 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; 9 cutaneous infections
Symptoms Streptococcus pneumoniae; otitis media, arthritis of
Symptoms both hips and retroperitoneal abscess in the right
Symptoms iliopsoas muscle, sinusitis
Symptoms Other bacterial infections:
Symptoms Other; Streptococcus equi; pharyngotonsillitis and
Symptoms tonsillitis, S. pyogenes; cervical lymphadenopathy
Sex XY
Ethnic origin Caucasoid; Spain
Relative IRAK4base; I0010 fourth-degree uncle
Relative IRAK4base; I0011 fourth-degree aunt
//
ID E402X(1b),E402X(1b); standard; MUTATION;
Accession I0010
Systematic name Allele 1 and 2: g.29351G>T, c.1204G>T, r.1204g>u,
Systematic name p.Glu402X
Original code IIA
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description a premature stop codon
Date 11-Sep-2006 (Rel. 1, Created)
Date 11-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16647422
RefAuthors Cardenes, M., von Bernuth, H., Garcia-Saavedra, A.,
RefAuthors Santiago, E., Puel, A., Ku, C. L., Emile, J. F., Picard,
RefAuthors C., Casanova, J. L., Colino, E., Bordes, A., Garfia, A.,
RefAuthors Rodriguez-Gallego, C.
RefTitle Autosomal recessive interleukin-1 receptor-associated
RefTitle kinase 4 deficiency in fourth-degree relatives.
RefLoc J Pediatr:549-551 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Staphylococcus aureus; pneumonia, septicemia, meningitis
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; tonsillar abscess, septicemia,
Symptoms cellulitis, pneumonia
Symptoms Other; cellulitis, osteomyelitis and cerebral abscess
Symptoms (unidentified microorganism)
Sex XY
Ethnic origin Caucasoid; Spain
Relative IRAK4base; I0009 first cousin once removed
Relative IRAK4base; I0011 sister
Comment The patient died at 2 year 5 months of age of S. aureus
Comment meningitis.
Comment The mutant allele was not found in the mother, perhaps
Comment suggesting that the 2 siblings (I0010 and I0011) have
Comment inherited two IRAK4 alleles from their father (uniparental
Comment isodisomy) or that they are also heterozygous for an
Comment undetected large deletion inherited from their mother, in
Comment which case they would be falsely homozygous for the known
Comment IRAK4 allele.
//
ID E402X(1c),E402X(1c); standard; MUTATION;
Accession I0011
Systematic name Allele 1 and 2: g.29351G>T, c.1204G>T, r.1204g>u,
Systematic name p.Glu402X
Original code IIB
Description Allele 1 and 2: A point mutation in the exon 11 leading to
Description a premature stop codon
Date 11-Sep-2006 (Rel. 1, Created)
Date 11-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16647422
RefAuthors Cardenes, M., von Bernuth, H., Garcia-Saavedra, A.,
RefAuthors Santiago, E., Puel, A., Ku, C. L., Emile, J. F., Picard,
RefAuthors C., Casanova, J. L., Colino, E., Bordes, A., Garfia, A.,
RefAuthors Rodriguez-Gallego, C.
RefTitle Autosomal recessive interleukin-1 receptor-associated
RefTitle kinase 4 deficiency in fourth-degree relatives.
RefLoc J Pediatr:549-551 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0051: 29351
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0051: 1253
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TDF7; IRAK4_HUMAN: 402
Feature /change: E -> X
Symptoms Pyogenic Gram-positive bacterial infections:
Symptoms Streptococcus pneumoniae; acute otitis media,
Symptoms meningitis, osteomyelitis
Symptoms Other bacterial infections:
Symptoms Pseudomonas aeruginosa; meningitis and multi-organ
Symptoms failure
Sex XX
Ethnic origin Caucasoid; Spain
Relative IRAK4base; I0009 first cousin once removed
Relative IRAK4base; I0010 brother
Comment The patient died at 8 months of age of rapidly progressive
Comment meningitis caused by Pseudomonas aeruginosa.
Comment The mutant allele was not found in the mother, perhaps
Comment suggesting that the 2 siblings (I0010 and I0011) have
Comment inherited two IRAK4 alleles from their father (uniparental
Comment isodisomy) or that they are also heterozygous for an
Comment undetected large deletion inherited from their mother, in
Comment which case they would be falsely homozygous for the known
Comment IRAK4 allele.
//
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