Combined immunodeficiency due to CD27 deficiency

Orpha code: 238505OMIM code: 615122

Definition

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
Classification

Disease

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

No additional description.

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