Mutation submission to ADAbase
for Adenosine deaminase deficiency
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 Failure to thrive Erythrodermia Skin rash Pneumonia
Lymphoadenopathy Hepatomegaly Splenomegaly Protracted diarrhea
Others specify
IMMUNE
STATUS
(prior to treatment)
  ADA activity   dAXP nmol/ml  % of total adenine nucleotides %
  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  
  PHA cpm x10-3   Maternal fetal transfusion
Relatives
Comments

Action


Submission instructions
ADAbase
Latest version: Wednesday, 19 February, 2014 10:31:7 by Gerard Schaafsma