Mutation submission to FASLGbase
for Autoimmune lymphoproliferative syndrome (ALPS1B)
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 
Sex  (XY=male, XX=female) Age at onset  years
Country of origin  Ethnic group 
 Consanguinity No Yes Not known
Symptoms
Physical findings:
Lymphoadenopathy
Adenopathy  
Systemic lupus erythematosus (SLE)
Splenomegaly
Hepatomegaly
Hepatosplenomegaly  
Thrombocytopenia
Leukopenia  
Hemolytic anemia
   
Others, specify
IMMUNE
STATUS
  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
TREATMENT  (please, check all that apply) 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)
Relatives
Comments

Action


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