X-linked lymphoproliferative disease due to SH2D1A deficiency

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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X-linked lymphoproliferative disease due to SH2D1A deficiency?

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Advocacy Organizations

Accessia Health Foundation

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Histiocytosis Association, Inc.

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]

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.

SALUS

Educate and provide resources to POC with Rare Cancers

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

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