X-linked lymphoproliferative disease due to SH2D1A deficiency
Synonyms: SAP deficiency | SH2D1A/SLAM-associated protein deficiency | X-linked lymphoproliferative syndrome type 1 | XLP1
A rare genetic primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection caused by hemizygous mutations in the X-linked SH2D1A gene resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis hepatic necrosis bone marrow hypoplasia and neurological involvement) hypogammaglobulinemia and B-cell lymphoma. Additional variable manifestations include vasculitis lymphomatoid granulomatosis aplastic anemia and chronic gastritis. Occasionally T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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X-linked lymphoproliferative disease due to SH2D1A deficiency?
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Phone: 856 589-6606 The Histiocytosis Association of America is dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research leading to better treatments and a cure. Outreach Initiatives These programs include educational brochures, networking directories, regional education meetings, newsletters, toll-free phone number, annual awareness campaign, online virtual community website, physician-linking network, and volunteer coalition. Fundraising Initiatives The goal of the Histiocytosis Association's Fundraising Program is to provide resources for the Association's research program, member support programs, administrative and fundraising costs through a cooperative effort of the Board of Trustees and Association staff with assistance from patients, families, physicians and friends of the Association. The HAA Community The Histiocytosis Association of America, a non-profit organization registered with the Federal Government, is dedicated to helping those dealing with the effects of rare histiocytic disorders by providing a variety of educational programs and emotional support services. There is no cost to become a member of the Histiocytosis Association of America. Membership is automatic at the time of initial contact and/or original request for information. Members are entered into the Association's database and coded according to his/her relationship with a histiocytosis patient. This coding system insures that members receive all pertinent and appropriate materials. Histiocytosis Association of America 332 North Broadway Pitman, New Jersey 08071 USA General Email: [email protected] Toll Free: 1 800-548-2758 In US and Canada only Phone: +1 856-589-6606 Fax: +1 856-589-6614 Jeffrey M. Toughill President Email: [email protected] Beth Anne Miller, MNM Chief Operating Officer Director of Development Email: [email protected] Charlotte Eastlack Finance Manager Email: [email protected] Jonna Dersch Web Development Manager Email: [email protected] ChristineToughill Special Events Manager Email: [email protected] Kathy Wisniewski Volunteer Program Manager Email: [email protected] Bryan Biello Fundraising Associate Email: [email protected] Gina Shim Administrative Assistant Email: [email protected] Katie Schopfer Community Outreach Associate Email: [email protected] c Suite 101 Pitman NJ 08071 8565896606 8565896614 8005482758 [email protected]
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