O afecțiune caracterizată prin valori crescute ale IgE serice, dermatită și infecții respiratorii.
Denumită și
HIES; hyper-IgE recurrent infection syndrome; hyperimmunoglobulin E syndrome
Include 14 subtipuri înrudite ↓Ascunde subtipurile ↑
- autosomal dominant combined immunodeficiency due to ERBIN deficiency
- autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
- autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- autosomal recessive combined immunodeficiency due to IL6R deficiency
- autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
- combined immunodeficiency due to DOCK8 deficiency
- hyper-IgE recurrent infection syndrome 1, autosomal dominant
- hyper-IgE recurrent infection syndrome 3, autosomal recessive
- hyper-IgE recurrent infection syndrome 4, autosomal recessive
- hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
- immunodeficiency 94 with autoinflammation and dysmorphic facies
- Netherton syndrome
