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]
Tregs targets are antigen presenting cells, such as dendritic cells, effector CD4(+) and CD8(+) lymphocytes but also effector antibody-producing B lymphocytes. [academia.edu]
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]
Liver, Gall & Pancreas
- Hepatosplenomegaly
Disease definition RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. [orpha.net]
Workup
Serum
- Cytopenia
Disease definition RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. [orpha.net]
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer. 2009;52(7):847-852. DOI: 10.1002/pbc.21965 [ Links ] 55. [scielo.org.mx]
- Monocytosis
Disease definition RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. [orpha.net]
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]
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]
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]
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]