KEGG   DISEASE: Autoimmune lymphoproliferative syndromes (ALPS)Help
H00108                      Disease                                

Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases:
CD95 (Fas) defect, ALPS type 1a;
CD95L (Fas ligand) defect, ALPS type 1b;
Caspase 10 defect, ALPS type 2a;
Caspase 8 defext, ALPS type 2b;
Activaing N-Ras defect, N-Ras ALPS
Autoimmune lymphoproliferative syndrome (ALPS) is an autosomal dominant disorder with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 gene (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV.
Primary immunodeficiency
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00108  Autoimmune lymphoproliferative syndromes
BRITE hierarchy
hsa04210 Apoptosis  
TNFRSF6 (Fas) [HSA:8771] [KO:K05143]
TNFSF6 (Fas ligand) [HSA:356] [KO:K04389]
Caspase 10 [HSA:843] [KO:K04400]
Caspase 8 [HSA:841] [KO:K04398]
N-Ras [HSA:4893] [KO:K07828]
Other DBs
PMID:17999750 (description, gene)
Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
BMC Immunol 8:28 (2007)
PMID:16611303 (gene)
Worth A, Thrasher AJ, Gaspar HB
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical  phenotype.
Br J Haematol 133:124-40 (2006)
PMID:17162365 (gene)
Kumar A, Teuber SS, Gershwin ME.
Current perspectives on primary immunodeficiency diseases.
Clin Dev Immunol 13:223-59 (2006)
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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