Autosomal dominant hyper IgE s铆ndrome

Revista Cubana de Hematología, Inmunología y Hemoterapia

Pino Blanco, Daily¹  Macías Abraham, Consuelo¹  Sánchez Segura, Miriam¹  de la Guardia Peña, Odalis M¹  Casado Hernández, Imilla¹  del Valle Pérez, Lázaro O¹ 

[1] Instituto de Hematología e Inmunología, La Habana, Cuba

关键词: síndrome de hiperIgE autosómico dominante;    enfermedad de Job;    inmunodeficiencia primaria;   

DOI  :  

学科分类：生理学与病理学

来源: SciELO

【 摘 要 】

Autosomal dominant hyper IgE syndrome is a rare primary immunodeficiency characterized by elevated levels of IgE, eczematoid dermatitis, recurrent infections of skin and lung and abscess formation with few inflammatory signs. Dental, skeletal and connective tissue disorders are also present. It is caused by dominant mutations of the gene encoding the protein signal transducer and activator of transcription 3 (STAT3) . This mutation deficit conditions in generating Th17 cells from CD4 + T cells which explains the special susceptibility of these patients to infection by S. aureus and Candida albicans. A teenager patient is presented, broad nasal bridge, arched palate, hypermobility, pathological fractures, scoliosis and fall of primary teeth delayed, eczematous rash from neonatal lung, skin infections, ear and mucocutáneous candidiasis. High levels of Ig E serum and eosinophilia were detected. The patient was treated with antibiotics and topical, tracking over 10 years. Conclusions: This syndrome is a rare condition, genetic causes require high degree of suspicion and early management of infections.

【 授权许可】

CC BY-NC