Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Mueller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Beziat V, Casanova JL (2016)
Publication Type: Journal article
Publication year: 2016
Book Volume: 213
Pages Range: 2413-2435
Journal Issue: 11
DOI: 10.1084/jem.20160576
Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell-intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologue of which is essential for CD28 signaling. The patients have cutaneous and pulmonary allergy, as well as a variety of bacterial and fungal infectious diseases, including invasive tuberculosis and mucocutaneous candidiasis. Proportions of circulating regulatory T cells and memory CD4(+) T cells are reduced. Their CD4(+) T cells do not respond to CD28 stimulation. Their CD4(+) T cells exhibit a "Th2" cell bias ex vivo and when cultured in vitro, contrasting with the paucity of "Th1," "Th17," and T follicular helper cells. The patients also display few memory B cells and poor antibody responses. This B cell phenotype does not result solely from the T cell deficiency, as the patients' B cells fail to activate NF-?B upon B cell receptor (BCR) stimulation. Human RLTPR deficiency is a CID affecting at least the CD28-responsive pathway in T cells and the BCR-responsive pathway in B cells.
APA:
Wang, Y., Ma, C.S., Ling, Y., Bousfiha, A., Camcioglu, Y., Jacquot, S.,... Casanova, J.-L. (2016). Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. Journal of Experimental Medicine, 213(11), 2413-2435. https://doi.org/10.1084/jem.20160576
MLA:
Wang, Yi, et al. "Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations." Journal of Experimental Medicine 213.11 (2016): 2413-2435.
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