Global Variome shared LOVD

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Phenotype #0000040985 Individual ID 00054283 Associated disease XLA;AGMX1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Diagnosis: Classical XLA; Symptoms: Chronic diarrhea, Pneumonia, Otitis media and Sinusitis, Conjunctivitis Inheritance Familial, X-linked recessive Age/Examination 06y (6 years) Age/Diagnosis 06y01m Age/Onset - Phenotype/Onset - Kinase activity - IgA (g/l) 0.03 IgE (g/l) - IgG (g/l) 2 IgG1 (g/l) - IgG2 (g/l) - IgG3 (g/l) - IgG4 (g/l) - IgM (g/l) 0.08 B cells (%) <1 B cells surf Ig (%) - CD3 - CD4 - CD8 - CD19 <1% CD20 - Protein - Owner name Asghar Aghamohammadi Database submission license No license selected Created by Asghar Aghamohammadi Date created 2006-11-15 00:00:00 +01:00 (CET) Date last edited 2018-08-22 16:07:28 +02:00 (CEST)

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