DOCK2 deficiency

Orpha code: 447737OMIM code: 616433

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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