Global Variome shared LOVD

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Phenotype #0000313899 Individual ID 00422695 Associated disease XLA;AGMX1 Diagnosis/Initial agammaglobulinemia Diagnosis/Definite XLA Phenotype details Bronchopneumonia, pleural effusion Inheritance Familial, X-linked recessive Age/Examination - Age/Diagnosis 13y Age/Onset 3y Phenotype/Onset - Kinase activity - IgA (g/l) 0.460 g/L IgE (g/l) - IgG (g/l) 4.400 g/L IgG1 (g/l) - IgG2 (g/l) - IgG3 (g/l) - IgG4 (g/l) - IgM (g/l) 0.570 g/L B cells (%) 0.00% B cells surf Ig (%) - CD3 - CD4 - CD8 - CD19 0.00% CD20 - Protein - Owner name Mauno Vihinen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-11 11:14:58 +01:00 (CET) Date last edited N/A

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