Phenotype #0000313891

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00422687
Associated disease	XLA;AGMX1
Diagnosis/Initial	agammaglobulinemia
Diagnosis/Definite	XLA
Phenotype details	Pneumonia, herpetic stomatitis
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	2y
Age/Onset	1y
Phenotype/Onset	-
Kinase activity	-
IgA (g/l)	0.060 g/L
IgE (g/l)	-
IgG (g/l)	0.510 g/L
IgG1 (g/l)	-
IgG2 (g/l)	-
IgG3 (g/l)	-
IgG4 (g/l)	-
IgM (g/l)	0.060 g/L
B cells (%)	1%
B cells surf Ig (%)	-
CD3	-
CD4	-
CD8	-
CD19	1%
CD20	-
Protein	-
Owner name	Mauno Vihinen
Database submission 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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