Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulat...
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
About this item
Full title
Author / Creator
Kubo, Satoshi , Fritz, Jill M. , Raquer-McKay, Hayley M. , Kataria, Rhea , Vujkovic-Cvijin, Ivan , Al-Shaibi, Ahmad , Yao, Yikun , Zheng, Lixin , Zou, Juan , Waldman, Alex D. , Jing, Xinyi , Farley, Taylor K. , Park, Ann Y. , Oler, Andrew J. , Charles, Adrian K. , Makhlouf, Melanie , AbouMoussa, Eman H. , Hasnah, Reem , Saraiva, Luis R. , Ganesan, Sundar , Al-Subaiey, Abdulrahman Ahmed , Matthews, Helen , Flano, Emilio , Lee, Hyun Hee , Freeman, Alexandra F. , Sefer, Asena Pınar , Sayar, Ersin , Çakır, Erkan , Karakoc-Aydiner, Elif , Baris, Safa , Belkaid, Yasmine , Ozen, Ahmet , Lo, Bernice and Lenardo, Michael J.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 respi...
Alternative Titles
Full title
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Authors, Artists and Contributors
Author / Creator
Fritz, Jill M.
Raquer-McKay, Hayley M.
Kataria, Rhea
Vujkovic-Cvijin, Ivan
Al-Shaibi, Ahmad
Yao, Yikun
Zheng, Lixin
Zou, Juan
Waldman, Alex D.
Jing, Xinyi
Farley, Taylor K.
Park, Ann Y.
Oler, Andrew J.
Charles, Adrian K.
Makhlouf, Melanie
AbouMoussa, Eman H.
Hasnah, Reem
Saraiva, Luis R.
Ganesan, Sundar
Al-Subaiey, Abdulrahman Ahmed
Matthews, Helen
Flano, Emilio
Lee, Hyun Hee
Freeman, Alexandra F.
Sefer, Asena Pınar
Sayar, Ersin
Çakır, Erkan
Karakoc-Aydiner, Elif
Baris, Safa
Belkaid, Yasmine
Ozen, Ahmet
Lo, Bernice
Lenardo, Michael J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11060421
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11060421
Other Identifiers
ISSN
1529-2908
E-ISSN
1529-2916
DOI
10.1038/s41590-021-01093-y
