KEGG   DISEASE: Familial hemophagocytic lymphohistiocytosis (FHPL)Help
H00109                      Disease                                

Familial hemophagocytic lymphohistiocytosis (FHPL)
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen, bone marrow, and CNS. The symptoms include fever, hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the major immune cytotoxic protein, were detected with frequency between 15% and 50% of all FHPL patients. UNC13D is the second gene associated with FHPL. The encoded protein (Munc13-4) is important for cytolytic granule exocytosis. Recently a third FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking, but its precise role is not known.
Primary immunodeficiency
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00109  Familial hemophagocyic lymphohistiocytosis
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D70-D77  Other diseases of blood and blood-forming organs
   D76  Certain diseases involving lymphoreticular tissue and reticulohistiocytic system
    H00109  Familial hemophagocytic lymphohistiocytosis
BRITE hierarchy
PRF1 [HSA:5551] [KO:K07818]
UNC13D [HSA:201294] [KO:K19728]
STX11 [HSA:8676] [KO:K08487]
Other DBs
ICD-10: D76.1
MeSH: D056735
OMIM: 603553 608898 603552
PMID:16304363 (description, gene)
Janka G, zur Stadt U
Familial and acquired hemophagocytic lymphohistiocytosis.
Hematology Am Soc Hematol Educ Program 82-8 (2005)
PMID:17162365 (gene)
Kumar A, Teuber SS, Gershwin ME.
Current perspectives on primary immunodeficiency diseases.
Clin Dev Immunol 13:223-59 (2006)
PMID:15096561 (gene)
Lim MS, Elenitoba-Johnson KS.
The molecular pathology of primary immunodeficiencies.
J Mol Diagn 6:59-83 (2004)
PMID:18424339 (gene)
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
Genetic diagnosis of primary immune deficiencies.
Immunol Allergy Clin North Am 28:387-412, x (2008)
PMID:17952897 (gene)
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
J Allergy Clin Immunol 120:776-94 (2007)

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