Síndrome de hiper-IgE associada a variante heterozigótica em STAT3 em paciente pediátrico
Luiz Fernando Jobim, Mariana Jobim Wilson, Gabriel Jobim Wilson
Resumo
A síndrome de Hiper-IgE (HIES) é uma imunodeficiência primária rara caracterizada por níveis elevados de imunoglobulina E (IgE), dermatite crônica e infecções recorrentes, sendo a forma autossômica dominante associada a variantes no gene STAT3. Relatamos o caso de paciente pediátrico com dermatite crônica, candidíase oral recorrente, infecções pulmonares de repetição, pneumonia necrotizante, aspergilose pulmonar e retenção prolongada de dentes decíduos. A investigação molecular por sequenciamento completo do exoma identificou variante heterozigótica rara em STAT3 (c.1861T>C; p.Phe621Leu), classificada como variante de significado incerto (VUS). O conjunto dos achados clínicos, imunológicos e moleculares reforçou o diagnóstico de síndrome de hiper-IgE associada ao STAT3, embora a ausência de estudo de segregação familiar e de ensaios funcionais impeça estabelecer relação causal definitiva entre a variante identificada e o fenótipo observado. O caso destaca a importância da integração entre avaliação clínica detalhada e análise genética na investigação de imunodeficiências primárias com variantes de significado incerto.
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Referências
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Submetido em:
05/03/2026
Aceito em:
08/06/2026
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