Human inherited RORγT deficiency encompasses genetic heterog…
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- DOI 10.1084/jem.20252038
- PMID https://pubmed.ncbi.nlm.nih.gov/42539146
- PMCID https://www.ncbi.nlm.nih.gov/pmc/articles/13419669
- OpenAlex ID W7169789623
- Type Article
- Language EN
- Published 04 Sep 2026
- Volume 223 (10)
- Pages e20252038
- Source The Journal of Experimental Medicine
- Publisher Rockefeller University Press
- Countries 8
- Institutions 29
- Added 21 Jul 2026
- Updated 29 Oct 2026
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Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity
Article 2026 EN Green
We previously reported inherited retinoic acid-related orphan receptor γ T (RORγT) deficiency in seven patients from three ancestries (Chilean, Palestinian, and Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afghan, Indian, Iranian, Japanese, and Sri Lankan), each homozygous for a new loss-of…
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48 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Iris Fagniez | Rockefeller University (US) | |
| 2 | Miyuki Tsumura | Hiroshima University (JP) | |
| 3 | Antoine Guérin | Garvan Institute of Medical Re… (AU) UNSW Sydney (AU) | |
| 4 | Hassan Abolhassani | Karolinska Institutet (SE) Children's Medical Center (IR) +1 | |
| 5 | Samin Sharafian | Shahid Beheshti University of … (IR) | |
| 6 | Mehrnaz Mesdaghi | Shahid Beheshti University of … (IR) | |
| 7 | Toyoki Nishimura | University of Miyazaki (JP) | |
| 8 | Harsha Prasada Lashkari | Manipal Academy of Higher Educ… (IN) Kasturba Medical College, Mang… (IN) +1 | |
| 9 | Sadashiva Rao | Manipal Academy of Higher Educ… (IN) Kasturba Medical College, Mang… (IN) +1 | |
| 10 | Stephanie Richards | Royal Children's Hospital (AU) | |
| 11 | Ji Eun Han | Rockefeller University (US) | |
| 12 | Ottavia M. Delmonte | National Institutes of Health (US) National Institute of Allergy … (US) | |
| 13 | Camille Kergaravat | Inserm (FR) Université Paris Cité (FR) +1 | |
| 14 | Janet G. Markle | Rockefeller University (US) Vanderbilt University Medical … (US) | |
| 15 | Masato Ogishi | Rockefeller University (US) | |
| 16 | Jing Han | Rockefeller University (US) | |
| 17 | Jessica N. Peel | Rockefeller University (US) | |
| 18 | Joseph Vellutini | Rockefeller University (US) | |
| 19 | Yi Feng | Rockefeller University (US) | |
| 20 | Camille Soudée | Hôpital Necker-Enfants Malades (FR) Inserm (FR) +3 | |
| 21 | Mélanie Migaud | Hôpital Necker-Enfants Malades (FR) Inserm (FR) +3 | |
| 22 | Boaz Palterer | National Institutes of Health (US) National Institute of Allergy … (US) | |
| 23 | Katherine Jackson | Garvan Institute of Medical Re… (AU) | |
| 24 | Shiho Nishimura | Hiroshima University (JP) | |
| 25 | Sonoko Sakata | Hiroshima University (JP) | |
| 26 | Keishiro Kinoshita | Kyushu University (JP) | |
| 27 | Ayako Yamamoto | University of Miyazaki (JP) | |
| 28 | Hiroshi Moritake | University of Miyazaki (JP) | |
| 29 | Mohammed Alzahrani | Security Forces Hospital (SA) | |
| 30 | Francisco Vallejos | — |
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