RESUMO
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 (Assuntos
Dermatite Atópica/diagnóstico
, Síndrome de Job/diagnóstico
, Adolescente
, Adulto
, Criança
, Pré-Escolar
, Dermatite Atópica/genética
, Dermatite Atópica/imunologia
, Feminino
, Deleção de Genes
, Humanos
, Lactente
, Interleucina-17/metabolismo
, Síndrome de Job/imunologia
, Masculino
, Pessoa de Meia-Idade
, Fator de Transcrição STAT3/genética
, Linfócitos T Auxiliares-Indutores/citologia
, Linfócitos T Auxiliares-Indutores/imunologia