Síndrome de hiper-IgE associada a variante heterozigótica em STAT3 em paciente pediátrico
Hyper-IgE syndrome associated with a heterozygous STAT3 variant in a pediatric patient
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.
Palavras-chave
Abstract
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated immunoglobulin E (IgE) levels, chronic dermatitis, and recurrent infections. The autosomal dominant form is associated with variants in the STAT3 gene. We report a pediatric patient with chronic dermatitis, recurrent oral candidiasis, recurrent pulmonary infections, necrotizing pneumonia, pulmonary aspergillosis, and prolonged retention of primary teeth. Molecular investigation using whole-exome sequencing identified a rare heterozygous STAT3 variant (c.1861T>C; p.Phe621Leu), classified as a variant of uncertain significance (VUS). The combination of clinical, immunological, and molecular findings reinforced the diagnostic suspicion of STAT3-associated Hyper-IgE syndrome, although the absence of family segregation studies and functional assays precluded establishing a definitive causal relationship between the identified variant and the observed phenotype. This case highlights the importance of integrating detailed clinical evaluation with genetic analysis in the investigation of primary immunodeficiencies involving variants of uncertain significance.
Keywords
References
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Submitted date:
03/05/2026
Accepted date:
06/08/2026
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