Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000060310 Individual ID 00080734 Associated disease XLP1 Phenotype details Symptoms: dysgammaglobulinemia with raised IgA and IgM, pulmonary infections, pneumonia, hilar adenopathy which progressed to fulminant infectious mononucleosis with haemophagocytosis, EBV-infection, depressed T-cell proliferative responses to mitogens Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Gerard C.P. Schaafsma Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gerard C.P. Schaafsma Date created 2016-09-09 16:02:39 +02:00 (CEST) Date last edited N/A

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