A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

Autor: Yuriy Stepanovskiy, Liudmyla Chernyshova, Elfride De Baere, Davood Mansouri, Nima Parvaneh, Mahboubeh Mansouri, María Teresa Herrera, S. Alireza Mahdaviani, Fabienne Jabot-Hanin, Jacinta Bustamante, Mélanie Migaud, Laurent Abel, Anne Puel, Jérémie Rosain, Alejandro Nieto-Patlán, Frédéric Tores, Mehrnaz Mesdaghi, Emilie Corvilain, Gaspard Kerner, Virginie Grandin, Edna Venegas-Montoya, Capucine Picard, Stéphanie Boisson-Dupuis, Patrick Nitschke, Sigifredo Pedraza-Sánchez, Carmen Oleaga-Quintas, Stéphane Marot, Caroline Deswarte, Jean-Laurent Casanova, Christine Bole-Feysot, Hannah Verdin, Anastasia Bondarenko, Garyfallia Syridou, Maria Tsolia, Sara Elva Espinosa-Padilla, Nathalie Lambert, Corinne Jacques, Lizbeth Blancas-Galicia, Marco Antonio Yamazaki-Nakashimada

Publikováno v: Journal of Clinical Immunology. 38:617-627

PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d9835a10b58e963862dde90caf04ed
https://doi.org/10.1007/s10875-018-0527-6

The spectrum of inborn errors of immunity: a single tertiary center retrospective study in Alborz, Iran.

Autor: Rasouli SE; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Tavakol M; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.; Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Sadri H; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.; Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Chavoshzadeh Z; Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alireza Mahdaviani S; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Delavari S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Jamee M; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kalantari A; Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran., Seifi Alan M; Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran., Aghamahdi F; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.; Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran., Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.; Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Yazdani R; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Rezaei N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran., Azizi G; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.

Publikováno v: European annals of allergy and clinical immunology [Eur Ann Allergy Clin Immunol] 2023 Jan; Vol. 55 (1), pp. 19-28. Date of Electronic Publication: 2021 Dec 17.