Database IL2RAbase
Version 1.1
File il2rapub.html
Date 21-Aug-2008
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/IL2RAbase/
Gene IL2RA
Disease IL2RA deficiency
OMIM 147730
GDB 119345
Sequence IDRefSeq:D0049; IDRefSeq:C0049; UniProt:P01589
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #A21X46(1),#A21X46(1); standard; MUTATION;
Accession I0001
Systematic name Allele 1 and 2: g.37297_37300delGCAG, c.61_64delGCAG,
Systematic name r.61_64delgcag, p.Ala21fsX26
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 27-Oct-2003 (Rel. 1, Created)
Date 27-Oct-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9096364
RefAuthors Sharfe, N., Dadi, H. K., Shahar, M., Roifman, C. M.
RefTitle Human immune disorder arising from mutation of the alpha
RefTitle chain of the interleukin-2 receptor.
RefLoc Proc Natl Acad Sci U S A 94:3168-3171 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10879793
RefAuthors Roifman, C. M.
RefTitle Human IL-2 receptor alpha chain deficiency.
RefLoc Pediatr Res 48:6-11 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0049: 37297..37300
Feature /change: -gcag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0049: 241..244
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01589; IL2RA_HUMAN: 21..22
Feature /change: AE -> SSVTMTRQRS HTPHSKPWPT RKEPCX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0049: 37297..37300
Feature /change: -gcag
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0049: 241..244
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01589; IL2RA_HUMAN: 21..22
Feature /change: AE -> SSVTMTRQRS HTPHSKPWPT RKEPCX
Symptoms Infections:
Symptoms Chronic diarrhea or rotaviral enteritis; Oral/cutaneous
Symptoms candidiasis;
Symptoms Failure to thrive;
Symptoms Physical findings:
Symptoms Presence of lymph tissue; Hepatosplenomegaly;
Symptoms Others:
Symptoms chronic inflammation of his mandible, chronic
Symptoms adenovirus gastroenteritis, anemia, recurrent
Symptoms exacerbation of lung disease
Sex XY
Parents Consanguineous
IgA <0.07
IgG 7-15
IgM 0.2-1.5
//
ID Q101X(1),@E231X269(1); standard; MUTATION; EC,EC
Accession I0002
Systematic name Allele 1: g.39016C>T, c.301C>T, r.301c>u, p.Gln101X
Systematic name Allele 2: g.43863dupA, c.692dupA, r.692dupa, p.Thr232fsX38
Original code 8-year-old boy
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Description Allele 2: A frame shift duplication mutation in the exon 6
Description leading to a premature stop codon in the EC domain
Date 03-Apr-2007 (Rel. 1, Created)
Date 03-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17196245
RefAuthors Caudy, A. A., Reddy, S. T., Chatila, T., Atkinson, J. P.,
RefAuthors Verbsky, J. W.
RefTitle CD25 deficiency causes an immune dysregulation,
RefTitle polyendocrinopathy, enteropathy, X-linked-like syndrome,
RefTitle and defective IL-10 expression from CD4 lymphocytes.
RefLoc J Allergy Clin Immunol:482-487 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0049: 39016
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0049: 481
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01589; IL2RA_HUMAN: 101
Feature /change: Q -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0049: 43864
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0049: 873
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P01589; IL2RA_HUMAN: 231
Feature /change: E -> EDVHIYNRVP GSSGRLCFPA DQRPPPEWAH LAAETEEEX
Feature /domain: EC
Symptoms Infections:
Symptoms Chronic diarrhea or rotaviral enteritis;
Symptoms Physical findings:
Symptoms Presence of lymph tissue; Hepatosplenomegaly; Chronic
Symptoms eczematoid rash;
Symptoms Others:
Symptoms insulin-dependent diabetes mellitus, chronic
Symptoms inflammation with villous atrophy consistent with
Symptoms autoimmune enteropathy, enlarged tonsils, symptoms of
Symptoms sleep apnea requiring tonsillectomy and adenoidectomy,
Symptoms severe autoimmune hemolytic anemia, asthma
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
Comment IPEX-like syndrome
//
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