关键词： B cell class switching CVID-like Follicular T helper cells Hypogammaglobulinemia IPEX cTFH

Mesh ： Adult Agammaglobulinemia / immunology therapy Anemia, Hemolytic, Autoimmune / immunology Autoimmunity / immunology B-Lymphocytes / immunology Diabetes Mellitus, Type 1 / congenital genetics immunology therapy Diarrhea / genetics immunology therapy Eczema / immunology Family Female Forkhead Transcription Factors / genetics Genetic Diseases, X-Linked / genetics immunology therapy Heterozygote Humans Immune System Diseases / congenital genetics immunology therapy Immunoglobulin Class Switching / immunology Immunoglobulins, Intravenous / therapeutic use Immunologic Factors / therapeutic use Intestinal Diseases / immunology Male Middle Aged Pedigree Pneumonia / immunology Recurrence Sinusitis / immunology T-Lymphocytes, Helper-Inducer / immunology Young Adult

来  源：   DOI：10.1016/j.clim.2018.10.005   PDF(Sci-hub)

Abstract：
Early onset multisystem autoimmunity is commonly the defining feature of IPEX. Recurrent sinopulmonary infections and CVID-like phenotype were not previously recognized as a presentation in IPEX. Herein, we describe three extended family members with IPEX. In addition to autoimmunity, all three had a CVID-like presentation consisting of recurrent sinopulmonary infections, hypogammaglobulinemia and B-cell class switching defect. In vitro studies have shown that the B cell class switching defect is not B cell intrinsic. Additionally, a marked increase in circulating T follicular helper (cTFH) cells with high IFN-γ and IL-17 secretion on stimulation was noted in our patients. The dysregulated cTFH cells could contribute to a decreased B cell class switching. However, the exact mechanism of how expanded and dysregulated cTFH lead to B cell class switching defect and hypogammaglobulinemia in our patients is not clear. Our study could extend the clinical spectrum of IPEX to include a CVID-like presentation.
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