Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report

Autor: Lauren V. Collen, Carlos Andres Salgado, Bin Bao, Erin Janssen, Dascha Weir, Jeffrey Goldsmith, Alan Leichtner, Nasim Sabery Khavari, Yael Gernez, Scott B. Snapper

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Primary immunodeficiency may present with treatment-refractory enteropathy. We present two patients with celiac/celiac-like disease diagnosed in early childhood and refractory to the gluten-free diet. One patient had features of multi-system autoimmu

Externí odkaz: https://doaj.org/article/45bd3438714c488d8cc705c26a877a71

Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency

Autor: Xuemei Tang, Lu Yang, Xiuhong Xue, Xuemei Chen, Huawei Mao, Li Xu, Mo Wang, Junfeng Wu, Xi Yang, Xiaodong Zhao

Publikováno v: Genes and Diseases, Vol 8, Iss 5, Pp 662-668 (2021)
Genes & Diseases

CTLA4 deficiency and LRBA deficiency are a group disorders of immune dysregulation that affect CTLA4 pathway. The patients mainly present with autoimmunity, antibody deficiency and recurrent infections. Here we reported three Chinese patients with LR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::057b4fba91278f0131cb905ef68bcb72
https://doi.org/10.1016/j.gendis.2020.03.001

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency.

Autor: Yang L; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Xue X; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Chen X; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Wu J; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Yang X; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Xu L; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Tang X; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Wang M; Department of Internal Nephrology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Mao H; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China., Zhao X; Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.; Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China.

Publikováno v: Genes & diseases [Genes Dis] 2020 Mar 12; Vol. 8 (5), pp. 662-668. Date of Electronic Publication: 2020 Mar 12 (Print Publication: 2021).