Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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%),…

• JM
  Jeffrey Modell Foundation
• SG
  St. Giles Foundation

  Award: ANR-10-IAHU-01
• DZ
  Deutsches Zentrum für Infektionsforschung

  Award: 07.801
• E
  E-Rare
• AN
  Agence Nationale de la Recherche

  Awards: 10-LABX-62-IBEID, 11-BSV3-005-01, ANR-14-RARE-0005-02, 10-IAHU-01, ANR-10-LABX-62-IBEID, ANR-10-IAHU-01, ANR-14-CE15-0006, ANR-10, ANR-14-RARE-0005, ANR-10-LABX-62
• IN
  Institut National de la Santé et de la Recherche Médicale

  Awards: ANR-10-IAHU-01, ANR-10-LABX-62-IBEID
• NI
  National Institutes of Health

  Award: ANR-10-IAHU-01
• MR
  Medical Research Council

  Award: MR/N006364/1
• NI
  National Institute of Allergy and Infectious Diseases

  Awards: U01AI109697, ANR-10-IAHU-01