Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

Autor:	Satoshi Kubo, Jill M. Fritz, Hayley M. Raquer-McKay, Rhea Kataria, Ivan Vujkovic-Cvijin, Ahmad Al-Shaibi, Yikun Yao, Lixin Zheng, Juan Zou, Alex D. Waldman, Xinyi Jing, Taylor K. Farley, Ann Y. Park, Andrew J. Oler, Adrian K. Charles, Melanie Makhlouf, Eman H. AbouMoussa, Reem Hasnah, Luis R. Saraiva, Sundar Ganesan, Abdulrahman Ahmed Al-Subaiey, Helen Matthews, Emilio Flano, Hyun Hee Lee, Alexandra F. Freeman, Asena Pınar Sefer, Ersin Sayar, Erkan Çakır, Elif Karakoc-Aydiner, Safa Baris, Yasmine Belkaid, Ahmet Ozen, Bernice Lo, Michael J. Lenardo
Přispěvatelé:	ÇAKIR, Erkan
Rok vydání:	2021
Předmět:	Male Primary Immunodeficiency Diseases Immunology ADAM17 Protein Mice Immunology and Allergy Animals Humans Pseudomonas Infections Child Macrophages Kubo S. Fritz J. M. Raquer-McKay H. M. Kataria R. Vujkovic-Cvijin I. Al-Shaibi A. Yao Y. Zheng L. Zou J. Waldman A. D. et al. -Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.- Nature immunology 2021 Enterobacteriaceae Infections Infant Newborn Colitis Mice Inbred C57BL HEK293 Cells A549 Cells Child Preschool Mutation Pseudomonas aeruginosa Citrobacter rodentium Cytokines Female Carrier Proteins Signal Transduction
Zdroj:	Nature immunology. 23(1)
ISSN:	1529-2916
Popis:	We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in two kindreds with recurrent infections in different organs. One patient had recurrent pneumonia but no colon involvement, another had recurrent infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. Loss of iRHOM2, a rhomboid superfamily member that regulates the ADAM17 metalloproteinase, caused defective ADAM17-dependent cleavage and release of cytokines, including tumor-necrosis factor and amphiregulin. To understand the diverse clinical phenotypes, we challenged Rhbdf2
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dfff11ac6fc2a78495279c1fbec6d2 https://pubmed.ncbi.nlm.nih.gov/34937930 Zobrazit plný text záznamu Full text from SpringerLink