Poikiloderma With Neutropenia

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

USB1, KLK3, VEGFC, C20orf181, PHGR1, GRHL2, ENOSF1, CD274, GABARAPL1, PLCB1, NDRG1, RECQL4, COL14A1, ASCL1, NFATC1, MYCN, MECP2, MAG, KCNMA1, HMGCR, GPX3, GPX1, GH1, FLT4, TRAP

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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Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.