Combined Immunodeficiency Due To Cd27 Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

CD27, CD27-AS1, APOE

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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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.