RESUMEN
BACKGROUND: Hyper-IgE syndromes (HIES) are primary immunodeficiency disorders characterized by Staphylococcus aureus abscesses, recurrent pneumonia, increased serum IgE levels, and eczema. The association of heterozygous signal transducer and activator of transcription 3 (STAT3) mutations with autosomal dominant (AD)-HIES allows the differentiation of AD-HIES from disorders associated with eczema and increased serum IgE levels, such as other primary immunodeficiencies and atopic dermatitis. OBJECTIVE: To facilitate early diagnosis of AD-HIES to initiate appropriate therapy. METHODS: The clinical phenotype (suggested by a National Institutes of Health [NIH] score of >or=40 points), STAT3 genotype, and T(H)17 cell counts were compared in a cohort of 78 patients suspected of having HIES. RESULTS: Heterozygous STAT3 missense mutations and in-frame deletions were identified in 48 patients, all but 2 with an NIH score >or=40 points. Patients with STAT3 mutations with HIES showed significantly lower T(H)17 cell counts compared with patients with wild-type STAT3 and control subjects. Only 1 patient with wild-type STAT3 had both an NIH score >or=40 points and abnormal T(H)17 cell counts (Asunto(s)
Dermatitis Atópica/diagnóstico
, Síndrome de Job/diagnóstico
, Adolescente
, Adulto
, Niño
, Preescolar
, Dermatitis Atópica/genética
, Dermatitis Atópica/inmunología
, Femenino
, Eliminación de Gen
, Humanos
, Lactante
, Interleucina-17/metabolismo
, Síndrome de Job/inmunología
, Masculino
, Persona de Mediana Edad
, Factor de Transcripción STAT3/genética
, Linfocitos T Colaboradores-Inductores/citología
, Linfocitos T Colaboradores-Inductores/inmunología