Mutation submission to NFKBIAbase
for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
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Submitter

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Address:
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References
PubMed ID



Mutation (Numbering by reference sequence entry

Mutation
description
Type 
Start number  Required
Reference seq 
Variant seq 

Patient

Background Patient's name (initials)
(confidential)
Date of birth
 

(confidential)
Original code (in publication) Sex (XY=male, XX=female)
Ethnic group Country of origin
Genetics
Defects of NFKBIA expression NFKBIA mutation
Are parents consanguineous? No Yes
Other affected family members? No Yes
If yes, phenotype (as compared to index case):
IKBA expression as assessed by polyclonal antiserum
Northern-blot (mRNA expression)
Clinical phenotype
Date diagnosis made Current situation: Alive Deceased
Date of death  Cause of death 
UPPER RESPIRATORY TRACT INFECTIONS
LOWER RESPIRATORY TRACT INFECTIONS
Evidence for interstitial pneumonia: No Yes
  if yes: PCP CMV other (specify)
cause unknown
SEPSIS: CNS INFECTIONS:
Bacterial (specify) Meningitis (specify pathogen)
Viral (specify) Encephalitis (specify pathogen)
Other (specify)
GASTRO-INTESTINAL TRACT MANIFESTATIONS:
Oral ulcers Protracted diarrhea (indicate etiology):
Proctitis Cryptosporidium Unknown etiology
Inflammatory bowel disease Bacterial (specify)
Intestinal nodular hyperplasia Viral (specify)
Peritonitis (specify origin) Other (specify)
OSTEO-ARTICULAR INFECTIONS:
Arthritis (specify pathogen)
Osteomyelitis (specify pathogen)
LIVER/BILIARY TRACT ABNORMALITIES:
Hepatitis (indicate etiology): Sclerosing cholangitis: Cirrhosis
HAV    HBV    HCV
CMV    EBV    Unknown
Other (specify)
Associated with:
Cryptosporidium CMV
Other (specify)
Idiopathic
HEMATOLOGICAL ABNORMALITIES: TUMORS: date of tumor diagnosis
Neutropenia: type (specify)
Anemia treatment
Thrombocytopenia outcome
AUTOIMMUNE MANIFESTATIONS:
   autoimmune hemolytic anemia    ITP    arthritis    vasculitis
   other clinical manifestations (specify)
  Anti-nuclear antibodies:   Anti-neutrophil antibodies:
  Anti-platelet antibodies:   Coombs' positivity:
  Other autoantibodies (specify if present):
OTHER CLINICAL FEATURES (specify):
Immune status (prior to BMT) Immunoglobulins (closest to diagnosis) date
IgG mg/dl
compare with "normal for age"
IgM mg/dl
compare with "normal for age"
IgA mg/dl
compare with "normal for age"
 IgE kU/L
compare with "normal for age"
ANTIBODY RESPONSES: Blood group:
Isoagglutinins: anti-A         anti-B
D/T date other: date
HiB date other: date
PPS date
LYMPHOCYTES:
at dx most recent
total lymphocytes /mm3 total B /mm3 total lymphocytes /mm3 total B /mm3
total CD4 /mm3 total CD8 /mm3 total CD4 /mm3 total CD8 /mm3
LYMPHOCYTE PROLIFERATION (most recent):
       PHA date       antigens date
anti-CD3 date alloantigens date
Treatment (please, check all that apply) IVIG:  date started
still on IVIG? No Yes, responding to: (dose: mg/Kg/ weeks)
  infection    neutropenia    serum IgM levels
PROPHYLACTIC MEDICATION: antibiotics CTX
other: other:
G-CSF:    Effect on netrophil count:   dose: µg/Kg/ day(s)
STEROIDS:  Effect on: autoimmunity neutropenia
oral ulcers, proctitis
TOTAL PARENTERAL NUTRITION:  Never Yes. If yes, still on TPN No Yes
BONE MARROW TRANSPLANTATION:  No Yes
   Donor:   T-cell chimerism:
Source: full marrow   T-depleted    CD34+ cells:
Outcome: Alive and well

   BMT -related problems (check all that apply): death acute GvHD grade >3 chronic GvHD BLPD liver disease growth retardation infertility
others (specify)
Comments

Action


Submission instructions
NFKBIAbase
Latest version: Wednesday, 19 February, 2014 10:31:8 by Gerard Schaafsma