Article
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
The Journal of experimental medicine - 17 Oct 2016
Wang Yi, Ma Cindy S, Ling Yun, Bousfiha Aziz, Camcioglu Yildiz, Jacquot Serge, Payne Kathryn, Crestani Elena, Roncagalli Romain, Belkadi Aziz, Kerner Gaspard, Lorenzo Lazaro, Deswarte Caroline, Chrabieh Maya, Patin Etienne, Vincent Quentin B, Müller-Fleckenstein Ingrid, Fleckenstein Bernhard, Ailal Fatima, Quintana-Murci Lluis, Fraitag Sylvie, Alyanakian Marie-Alexandra, Leruez-Ville Marianne, Picard Capucine, Puel Anne, Bustamante Jacinta, Boisson-Dupuis Stéphanie, Malissen Marie, Malissen Bernard, Abel Laurent, Hovnanian Alain, Notarangelo Luigi D, Jouanguy Emmanuelle, Tangye Stuart G, Béziat Vivien, Casanova Jean-Laurent
Abstract excerpt
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...
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