Mutation submission to ZAP70base
for Autosomal recessive ZAP-70 immunodeficiency
Please, note that it is the responsibility of the submitters to ascertain that they have
the right to submit the data and they have the necessary permissions, including the
consent from the patient or family.
The submitted data will be made publicly available on the database website.
If you want to submit confidential cases, please, contact the database curator.

Submitter

Name: (Obligatory)
Address:
Telephone: Fax:
E-mail: (Obligatory)
References
PubMed ID



Mutation Numbering by reference sequence entry

Mutation
description
Heterozygous Homozygous
Allele 1   Allele 2
Type    Type 
Start number  Required   Start number  Required
Reference seq    Reference seq 
Variant seq    Variant seq 

Patient

Background Original code  Family history 
Sex  (XY=male, XX=female) Age at diagnosis  years
Country of origin  Ethnic group 
Diagnosis
Symptoms Infections:
P. Carinii pneumonia
Cytomegalovirus retinis or other infection
Parainfluenza pneumonitis
Chronic diarrhea or rotaviral enteritis
Severe or disseminated varicella
Oral/cutaneous candidiasis
Failure to thrive
Physical findings:
Presence of lymph tissue
Hepatosplenomegaly
Chronic eczematoid rash
Thymic shadow on chest X-ray
Others, specify
IMMUNE
STATUS
(prior to BMT)
  WBC x103/μL  Lymphocytes x103/μL  Eosinophils x103/μL
CD3 % CD4 % CD8 % CD16 %
  CD19 % CD45RA % CD45R0 % DR %
IgG mg/ml IgA mg/ml IgM mg/ml IgE kU/I  
Lymphocyte proliferation
Mitogens
(PHA,PWM)
cpm   Alloantigen cpm
Soluble antigen
(tetanus, candida)
cpm   Anti-CD3 cpm
Relatives
Comments

Action


Submission instructions
ZAP70base
Latest version: Wednesday, 19 February, 2014 10:31:8 by Gerard Schaafsma