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familial hemophagocytic lymphohistiocytosis

FHL, HPLH, HLH, familial erythrophagocytic lymphohistiocytosis

 

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.

-  sudden-onset fever
-  visceral lymphohistiocytic infiltration
-  meningeal lymphohistiocytic infiltration
-  hepatic anomalies

Loci

-  HLH1 at 9q21.3-q22
-  HLH2 at 10q21-q22: mutations in the gene encoding perforin (PRF1) (MIM.170280)
-  HLH3 at 17q25.1: mutations in the UNC13D gene (MUNC13-4)(MIM.608897)
-  HLH4 at 6q24: mutations in syntaxin-11 (STX11) (MIM.605014)

References

-  Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: #16260137#

-  Kapelari K, Fruehwirth M, Heitger A, Konigsrainer A, Margreiter R, Simma B, Offner FA. Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis. Virchows Arch. 2005 Jun;446(6):619-25. PMID: #15906086#

-  Kakkar N, Vasishta RK, Banerjee AK, Marwaha RK, Thapa BR. Familial hemophagocytic lymphohistiocytosis: an autopsy study. Pediatr Pathol Mol Med. 2003 May-Jun;22(3):229-42. PMID: #12746174#

-  de Saint Basile G, Fischer A. The role of cytotoxicity in lymphocyte homeostasis. Curr Opin Immunol. 2001 Oct;13(5):549-54. PMID: #11544002#

-  Ost A, Nilsson-Ardnor S, Henter JI. Autopsy findings in 27 children with haemophagocytic lymphohistiocytosis. Histopathology. 1998 Apr;32(4):310-6. PMID: #9602326#

-  Favara BE. Hemophagocytic lymphohistiocytosis: a hemophagocytic syndrome. Semin Diagn Pathol. 1992 Feb;9(1):63-74. PMID: #1561489#

-  Wieczorek R, Greco MA, McCarthy K, Bonetti F, Knowles DM 2nd. Familial erythrophagocytic lymphohistiocytosis: immunophenotypic, immunohistochemical, and ultrastructural demonstration of the relation to sinus histiocytes. Hum Pathol. 1986 Jan;17(1):55-63. PMID: #3080365#

-  Akima M, Sumi SM. Neuropathology of familial erythrophagocytic lymphohistiocytosis: six cases and review of the literature. Hum Pathol. 1984 Feb;15(2):161-8. PMID: #6698535#



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