Idioma:

A young child with Hyper IgE Syndrome (HIES) with a Novel Variant in signal transduction and activator of transcription 3 (STAT3) and Disseminated Histoplasmosis

Robinson, W ; Vickery, J ; Michael, C ; Arnold, S ; Schoumacher, R ; Chesney, R ; Lakin, K ; Ward, J ; Pivnick, E ; Lew, D

Journal of allergy and clinical immunology, 2011-02, Vol.127 (2), p.AB18-AB18 [Periódico revisado por pares]

Texto completo disponível

Citações Citado por

Título:
A young child with Hyper IgE Syndrome (HIES) with a Novel Variant in signal transduction and activator of transcription 3 (STAT3) and Disseminated Histoplasmosis
Autor: Robinson, W ; Vickery, J ; Michael, C ; Arnold, S ; Schoumacher, R ; Chesney, R ; Lakin, K ; Ward, J ; Pivnick, E ; Lew, D
Assuntos: Allergy and Immunology ; Mutation ; Pneumonia
É parte de: Journal of allergy and clinical immunology, 2011-02, Vol.127 (2), p.AB18-AB18
Descrição: IgA normalized but he worsened clinically manifesting developmental delay, osteopenia, femur/tibial fractures, progressive dysphagia/aspiration pneumonia, and pneumococcal pneumonia/empyema/pneumatocele. STAT3 analysis revealed a missense mutation in exon 20 within the SH2 domain [c.1772A>T, amino acid change p.Lys591Met].
Editor: St. Louis: Mosby, Inc
Idioma: Inglês

Voltar para lista de resultados

Resultado 1 Avançar Ir para próxima página