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.
Newly diagnosed with
X-linked lymphoproliferative disease due to SH2D1A deficiency?
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Advocacy Organizations
The Dynamite Foundation Inc
The Dynamite Foundation is on a mission to share love, hope, and joy with individuals impacted by Histiocytosis around the world
Histiocytosis Association
We are dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research leading to better treatments and a cure.
Histiocytosis Association
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
Help Hope Live
Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to organ transplants or catastrophic injuries or illnesses. For 38 years, Help Hope Live has been showing clients and families how to bring together a network of relatives, friends, and neighbors in fundraising efforts to help cover the cost of uncovered medical expenses. These efforts play a critical role in helping our clients recover and maintain their health and independence. Since 1983, we have helped thousands of people raise millions of dollars for Help Hope Live to pay a wide range of expenses, including out-of-pocket costs for: medications, durable medical equipment, home health care, wheelchair-accessibility modifications, physical therapy, innovative treatments, medical travel and temporary relocation, even emergency living assistance. Our program has also helped thousands pay it forward and assist others with their medical expenses. Annually, we help place medical care within reach of about 5,000 families across the nation.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
Inclusive Skating
TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Our Odyssey
Connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
Jamal’s Helping Hands
Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.
Patient Advocate Foundation
Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.
Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Clinical Trials
For a list of clinical trials in this disease area, please click here.