Genes PRF1, UNC13D, STX11, STXBP2 Also known as: Familial Erythrophagocytic Lymphohistiocytosis; Primary Hemophagocytic Lymphohistiocytosis OMIM#603553 https://omim.org/entry/603553 OMIM#608898 https://omim.org/entry/608898 OMIM#603552 https://omim.org/entry/603552 OMIM#613101 https://omim.org/entry/613101 1. The disease fHLH is an immune...
Includes: — Griscelli syndrome type 1 – MYO5A gene Also known as: Griscelli syndrome with neurologic impairment; Partial albinism and primary neurologic disease without hemophagocytic syndrome; Griscelli syndrome, cutaneous...
LYST gene OMIM#214500 https://omim.org/entry/214500 1. The disease Chediak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and...
Includes: Autosomal dominant severe congenital neutropenia – Also known as: ELANE-related neutropenia – ELANE, GFI1, SRP54 genes OMIM#233700 https://omim.org/entry/233700 OMIM#613107 https://omim.org/entry/613107 OMIM#618752 https://omim.org/entry/618752 – Autosomal recessive severe congenital neutropenia...
26 genes – ADA, AK2, CD247, CD3D, CD3E, CD3G, CIITA, CORO1A, DCLRE1C, DOCK2, FOXN1, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, ZAP70...
CYBA, NCF1, NCF2, NCF4, and CYBB genes Also known as: CYBA deficiency; recessive chronic granulomatous diseases; x-linked chronic granulomatous disease; NCF1 or SOC2 deficiency; NCF2 deficiency; NCF4 deficiency Includes:...