Title
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Date Issued
23 June 2016
Access level
open access
Resource Type
journal article
Author(s)
Toubiana J.
Okada S.
Hiller J.
Oleastro M.
Gomez M.L.
Ouachée-Chardin M.
Fouyssac F.
Girisha K.M.
Etzioni A.
Van Montfrans J.
Camcioglu Y.
Kerns L.A.
Belohradsky B.
Blanche S.
Bousfiha A.
Rodriguez-Gallego C.
Meyts I.
Kisand K.
Reichenbach J.
Renner E.D.
Rosenzweig S.
Grimbacher B.
Van De Veerdonk F.L.
Traidl-Hoffmann C.
Picard C.
Marodi L.
Morio T.
Kobayashi M.
Lilic D.
Milner J.D.
Holland S.
Casanova J.L.
Puel A.
Publisher(s)
American Society of Hematology
Abstract
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guérin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.
Start page
3154
End page
3164
Volume
127
Issue
25
Language
English
OCDE Knowledge area
Genética, Herencia
Scopus EID
2-s2.0-84977482520
PubMed ID
Source
Blood
ISSN of the container
00064971
Sponsor(s)
The authors thank the patients and their relatives, as well as Lahouari Amar and Yelena Nemirovskaya. The Laboratory of Human Genetics of Infectious Diseases was supported by the French National Research Agency (ANR) under the "Investments for the future" program (ANR-10-IAHU-01), GENCMCD grant (ANR-11-BSV3-005-01), HGDIFD (ANR-14- CE15-0006), and Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases (# ANR-10-LABX-62-IBEID); INSERM; University Paris Descartes; the Jeffrey Modell Foundation-Translational Research Program; the Jeffrey Modell Centers Network; the Rockefeller University; the St. Giles Foundation; and the National Institute of Allergy and Infectious Diseases, National Institutes of Health (grant U01AI109697). This work was also supported by the ERA-Net for Research Programmes on Rare Diseases "E-RARE EURO CMC" (ANR-14-RARE-0005-02). B.G. was supported by the Helmholtz Center grant DZIF (8000805-3-TTU-IICH 07.801). J.R. was supported by Gebert Rüf Stiftung-programme Rare Diseases-New Approaches, EUFP7 CELL-PID, EUFP7 NET4CGD, ZIHP. C.R.-G. was supported by the Ministerio de Sanidad, Spain (grant PI13/1456), from the Regional Development Fund-European Social Fund (FEDER-FSE).
Sources of information:
Directorio de Producción Científica
Scopus