Global Variome shared LOVD

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

Phenotype #0000040599 Individual ID 00053897 Associated disease XLA;AGMX1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Sinusitis; Skin infection; Inheritance Familial, X-linked recessive Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Kinase activity - IgA (g/l) 0.31 IgE (g/l) - IgG (g/l) 3 IgG1 (g/l) - IgG2 (g/l) - IgG3 (g/l) - IgG4 (g/l) - IgM (g/l) 0.21 B cells (%) 2 B cells surf Ig (%) - CD3 - CD4 - CD8 - CD19 - CD20 - 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 2006-04-13 00:00:00 +02:00 (CEST) Date last edited 2019-06-14 12:21:51 +02:00 (CEST)

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