Combined immunodeficiency with granulomatosis
Engelsk navn: Combined immunodeficiency with granulomatosis
Engelske synonym: CID due to RAG 1/2 deficiency,Combined immunodeficiency due to RAG 1/2 deficiency
Definisjon
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.
Fra Orphanet
ORPHA: 157949
Klassifiseringsnivå: Disorder
ICD-10: D81.1
