Synonyms: SCID due to LCK deficiency | SCID due to lymphocyte-specific protein tyrosine kinase deficiency | Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
A rare combined T- and B-cell immunodeficiency characterized by failure to thrive severe diarrhea opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency leading to an important risk factor for inflammation and autoimmunity.
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 September 2024
Newly diagnosed with
Severe combined immunodeficiency due to LCK deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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.
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.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
SCID Angels For Life Foundation
SCID Angels for Life is committed to increasing awareness, providing a safe environment for families to connect, granting family scholarships, promoting research, and providing parent and family education for those affected by Severe Combined Immune Deficiency. SCID Angels believes that through our advocacy and support we can empower every patient to strive for the highest possible quality of life
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Think of me Please®
Think of me Please® is dedicated to raising awareness and support for immunocompromised individuals and helping to reduce added health risks in the community.
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
For a list of clinical trials in this disease area, please click here.