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RAS-Associated Autoimmune Leukoproliferative Disease
ALPS4

Presentation

Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukemia (JMML; see this term). [orpha.net]

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation. Haematologica. 2013;98(4):e-38-e-39. DOI:10.3324/haematol.2012.070524 [ Links ] 26. Jackson CE, Puck JM. [scielo.org.mx]

Modulation of diacylglycerol acyltransferase 1 expression CA2520864A1 (fr) 2003-03-31 2004-10-21 Alza Corporation Particules lipidiques presentant un revetement lipidique asymetrique et procede de preparation associe HUE030579T2 (en) 2003-04-04 2017-05 [patents.google.com]

Tregs targets are antigen presenting cells, such as dendritic cells, effector CD4(+) and CD8(+) lymphocytes but also effector antibody-producing B lymphocytes. [academia.edu]

Treatment

Method of treatment of inflamed tissues US20010051183A1 (en) * 1989-10-20 2001-12-13 Alza Corporation Liposomes with enhanced circulation time and method of treatment US20030113369A1 (en) * 1991-01-16 2003-06-19 Martin Francis J. [patents.google.com]

New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Curr Opin Pediatr. 2012;24(1):1-8. DOI: 10.1097/MOP.0b013e32834ea739. [ Links ] 62. Russell TB, Kurre P. [scielo.org.mx]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis

Inhibiteurs puissants et selectifs de nav1.3 et nav1.7 US10184942B2 (en) 2011-03-17 2019-01-22 University Of South Florida Natriuretic peptide receptor as a biomarker for diagnosis and prognosis of cancer US9181308B2 (en) 2011-03-28 2015-11-10 St. [patents.google.com]

Etiology

Etiology RALD is caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. [orpha.net]

Epidemiology

Summary Epidemiology Prevalence of this disorder is not known. It is extremely rare with fewer than 20 patients reported to date. Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood. [orpha.net]

Prevention

Mast cell stabilizers to prevent or treat laminitis WO2006013552A2 (fr) 2004-08-02 2006-02-09 Ramot At Tel Aviv University Ltd. [patents.google.com]

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