Combined immunodeficiency with granulomatosis

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Combined immunodeficiency with granulomatosis

Synonyms: CID due to RAG 1/2 deficiency | Combined immunodeficiency due to RAG 1/2 deficiency

A rare genetic non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections) destructive noninfectious granulomas involving skin mucosa and internal organs and various autoimmune manifestations (including cytopenias vitiligo psoriasis myasthenia gravis enteropathy). Immunophenotypically T-cell and B-cell lymphopenia hypogammaglobulinemia abnormal specific antibody production and impaired T-cell function are observed.

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 March 2024

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Clinical Trials

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