Synonyms: Bare lymphocyte syndrome type 1 | MHC class I deficiency
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations as well as asymptomatic individuals have been reported.
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 October 2024
Newly diagnosed with
Immunodeficiency by defective expression of MHC class I?
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Advocacy Organizations
Accessia Health
Accessia Health is a national nonprofit 501(c)(3) organization that provides programs and services to individuals of all ages who are living with a rare or chronic health condition. With 80+ disease programs, we offer case management, education, and financial assistance for health insurance premiums, medication copayments, travel, and other medical expenses. We’re focused on addressing unmet needs in healthcare, including paying for important expenses such as diagnostic tests, durable medical equipment, and more. Our holistic, inclusive, outcomes focused approach offers patients comprehensive support throughout their healthcare journey.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
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.