Phenotype #0000313917

Individual ID 00422713
Associated disease XLA;AGMX1
Diagnosis/Initial agammaglobulinemia
Diagnosis/Definite XLA
Phenotype details rash in the trunk and lower limbs and a profound neutropenia
Inheritance Familial, X-linked recessive
Age/Examination 2y8m (2 years, 8 months)
Age/Diagnosis 3y4m
Age/Onset 2m
Phenotype/Onset hypogammaglobulinemia, oscillating neutropenia, allergy
Kinase activity -
IgA (g/l) <0.06 g/L
IgE (g/l) 119 IU/ml
IgG (g/l) 3.18 g/L
IgG1 (g/l) -
IgG2 (g/l) -
IgG3 (g/l) -
IgG4 (g/l) -
IgM (g/l) 0.09 g/L
B cells (%) -
B cells surf Ig (%) -
CD3 91%
CD4 50%
CD8 40%
CD19 1%
CD20 -
Protein -
Owner name Mauno Vihinen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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