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Condition report · Immunological

Hyper-IgE Syndrome

A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The condition we analyse

A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.

Genes analysed

Also known as

HIES; hyper-IgE recurrent infection syndrome; hyperimmunoglobulin E syndrome

Includes 14 related subtypes ↓
  • 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
MONDO:0018037Orphanet 331223MedGen 854488

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