4A01.23
Primary haemophagocytic lymphohistiocytosis
Linfohistiocitose hemofagocítica primária
CategoryDefinition
A disease caused by determinants arising after birth, during the antenatal period or genetically inherited factors leading to uncontrolled proliferation of activated lymphocytes and macrophages. This disease is characterised by increased proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. This disease may present with fever, rash, jaundice, splenomegaly, lymphadenopathy, histiocytosis, haemophagocytosis, or cytopenia.
Inclusions
- Histiocytoses of mononuclear phagocytes
Index Terms
Primary haemophagocytic lymphohistiocytosisHaemophagocytic syndromeHistiocytoses of mononuclear phagocyteshaemophagocytic lymphohistiocytosis NOSFamilial haemophagocytic lymphohistiocytosisfamilial erythrophagocytic lymphohistiocytosisFEL - [familial erythrophagocytic lymphohistiocytosis]familial histiocytic reticulosisfamilial haemophagocytic histiocytosisFHL - [familial haemophagocytic lymphohistiocytosis]Perforin deficiencyFHL1FHL1 - [Familial haemophagocytic lymphohistiocytosis] 1STXBP2 deficiencyFHL5FHL5 - [Familial haemophagocytic lymphohistiocytosis] 5Syntaxin deficiencyFHL4FHL - [Familial haemophagocytic lymphohistiocytosis] 4UNC13D deficiencyFHL3FHL - [Familial haemophagocytic lymphohistiocytosis] 3Griscelli syndrome type 2Hypopigmentation - immunodeficiency, with or without neurological impairmentPartial albinism and immunodeficiency syndromeGS2 (MIM 607624)