Severe combined immunodeficiency due to complete RAG1/2 deficiency

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Severe combined immunodeficiency due to complete RAG1/2 deficiency

Synonyms: SCID due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening severe recurrent infections by opportunistic fungal viral and bacterial micro-organisms as well as skin rashes chronic diarrhea failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

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 February 2024

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Severe combined immunodeficiency due to complete RAG1/2 deficiency?

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Advocacy Organizations

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

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.