Combined immunodeficiency due to CD27 deficiency

Orpha code: 238505OMIM code: 615122

Definicja

A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal recessive lymphoproliferative disease due to CD27 deficiency
CD27 deficiency
Autosomal recessive lymphoproliferative disease due to CD27 deficiency
CD27 deficiency
Kod ORPHA
238505
Kod OMIM
615122
Kod ICD10
D47.9
Kod ICD11
-

No additional description.

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