Cyclic Neutropenia

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

ELANE, CSF3, SHH, UGT1A1, CSF3R, ADA, KEAP1, MAPK8, PTGS2, AURKA, TNF, SLC35A2, UGT1A, COIL, EEA1, LEF1, PRPF31, DUOX2, PRKAA2, WDR48, LRRC4C, NT5C1A, CNDP1, LHX4, G6PC3, MIR122, PRKAB1, PPARG, PRKAA1, AGTR1, ALB, CCND1, C4A, C4B, CALR, CASP3, CD34, CORT, FLT3, HOXB8, HTR1B, IL1R1, KRAS, LIMK2, MPZ, NFE2L2, PNP, NPM1, PAX6, PGR, POMC, C4B_2

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 primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.