Mutation submission to PTPRCbase
for CD45 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 
Sex  (XY=male, XX=female) Age at onset  years
Country of origin  Ethnic group 
 Consanguinity No Yes Not known
Symptoms Infections:
EBV infection
Fever
Pneumonia
Chronic diarrhea
Meningitis
Oral/cutaneous candidiasis
Others, specify
Neurologic and motor defects:
Failure to thrive
Mental retardation
Hypotonia
Hypoactivity
Seizure
Ataxia
Nystagmus
Convulsion
Strabismus
Motor development delay
Others, specify
Physical findings:
Haemophagocytic syndrome (HS)
Lymphadenopathy
Splenomegaly
Hepatomegaly
Hepatosplenomegaly
Hypertriglyceridaemia
Pancytopenia
Coagulation disorder
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  
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
PTPRCbase
Latest version: Wednesday, 19 February, 2014 10:31:8 by Gerard Schaafsma