Autoimmune lymphoproliferative syndromes

Definition:

Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders 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 genes (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.

References:

[1]. Alexandre Belot, et al. Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 2013 Aug;65(8):2161-71. [Content Brief]

[2]. Austen Worth, et al. Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol. 2006 Apr;133(2):124-40. [Content Brief]

[3]. Elisa Cerutti, et al. Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol. 2007 Nov 13;8:28. [Content Brief]

[4]. Hye Sun Kuehn, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014 Sep 26;345(6204):1623-1627. [Content Brief]

[5]. João B Oliveira, et al. NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 2007 May 22;104(21):8953-8. [Content Brief]

[6]. Raif S Geha, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. [Content Brief]

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