Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment. Expert Rev Clin Immunol. 2019 Sep 19;: Authors: Bulkhi AA, Dasso JF, Schuetz C, Walter JE Abstract Introduction: Patients with primary immunodeficiency (PID) secondary to abnormal recombinase activating genes (RAG) can present with broad clinical phenotypes ranging from early severe infections to autoimmune complications and inflammation. Immunological phenotype may also vary from T-B- severe combined immunodeficiency (SCID) to combined immunodeficiency (CID) or antibody deficiencies with near normal T and B cell counts and even preserved specific antibody response to pathogens. It is not uncommon that RAG variants of uncertain significance (VUS) are identified by serendipity during a broad genetic screening process and pathogenic RAG variants are increasingly recognized among all age groups, including adults. Establishing the pathogenicity and clinical relevance of novel RAG variants can be challenging since RAG genes are highly polymorphic. This review paper aims to summarize clinical phenotypes of RAG deficiencies and provide practical guidance for confirming the direct link between specific RAG variants and clinical disease. Lastly, we will review current understanding of treatment option for patients with varying severity of RAG deficiencies. Area covered: This review discusses the different phenotypes and immunological aspects of RAG deficien...
Source: Expert Review of Clinical Immunology - Category: Allergy & Immunology Tags: Expert Rev Clin Immunol Source Type: research