4A01.23
category
Primary haemophagocytic lymphohistiocytosis
Definition
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
- histiocytosis of mononuclear phagocytes
Also indexed as
FEL - [familial erythrophagocytic lymphohistiocytosis]FHL - [Familial haemophagocytic lymphohistiocytosis] 3FHL - [Familial haemophagocytic lymphohistiocytosis] 4FHL - [familial haemophagocytic lymphohistiocytosis]FHL1FHL1 - [Familial haemophagocytic lymphohistiocytosis] 1FHL3FHL4FHL5FHL5 - [Familial haemophagocytic lymphohistiocytosis] 5Familial haemophagocytic lymphohistiocytosisGS2 (MIM 607624)Griscelli syndrome type 2Hypopigmentation - immunodeficiency, with or without neurological impairmentPartial albinism and immunodeficiency syndromePerforin deficiencyPrimary haemophagocytic lymphohistiocytosisSTXBP2 deficiencySyntaxin deficiencyUNC13D deficiencyfamilial erythrophagocytic lymphohistiocytosisfamilial haemophagocytic histiocytosisfamilial histiocytic reticulosishaemophagocytic lymphohistiocytosis NOShaemophagocytic syndromehistiocytosis of mononuclear phagocytes
Nearby in Diseases of immune dysregulation
4A01.20Immune dysregulation syndromes with hypopigmentation4A01.21Immune dysregulation syndromes presenting primarily with autoimmunity4A01.22Immune dysregulation syndromes presenting primarily with lymphoproliferation4B4YOther specified diseases of the immune system4B4ZDiseases of the immune system, unspecified