DOCK2 deficiency

Orpha code: 447737OMIM code: 616433

Definition

A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.

Disease data
Classification

Disease

ORPHA code
447737
OMIM code
616433
ICD10 code
D81.8
ICD11 code
-

No additional description.

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