X-Linked Severe Combined Immunodeficiency

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

IL2RG, IL4, IL2, IL15, IL7, CD34, LINC02605, JAK3, IL9, EBI3, IL18R1, ADA, LMO2, GH1, IL21, BTK, CD40, IL7R, FUT1, IL22, TBC1D9, CORO1A, AICDA, DCLRE1C, DLL4, MTA2, AAVS1, CDR3, WAS, TRBV20OR9-2

IL2RG, IL4, IL2, IL15, IL7, CD34, LINC02605, JAK3, IL9, EBI3, IL18R1, ADA, LMO2, GH1, IL21, BTK, CD40, IL7R, FUT1, IL22, TBC1D9, CORO1A, AICDA, DCLRE1C, DLL4, MTA2, AAVS1, CDR3, WAS, TRBV20OR9-2, ABCB1, PGK1, IL13, GHR, ATN1, CD40LG, AR, JAK1

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Retroviral gamma-c cDNA containing vector, 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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X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.