Hyper-IgE syndrome

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Hyper-IgE syndrome

ORPHA:331223Clinical group

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Clinical group

Genes reported in subtypes

BCL11BCARD11ERBINIL6RIL6STPGM3SPINK5STAT3ZNF341

Orphanet records these genes on 11 more specific entries under this disorder, not on this entry itself:

Autosomal dominant combined immunodeficiency due to ERBIN deficiencyAutosomal dominant combined immunodeficiency due to partial IL6ST deficiencyAutosomal dominant hyper-IgE syndrome due to STAT3 deficiencyAutosomal recessive combined immunodeficiency due to complete IL6ST deficiencyAutosomal recessive combined immunodeficiency due to IL6R deficiencyAutosomal recessive combined immunodeficiency due to partial IL6ST deficiencyAutosomal recessive hyper-IgE syndrome due to ZNF341 deficiencyCADINS diseaseIntellectual disability-speech delay-dysmorphic features-T cell abnormalities syndromeNetherton syndromePGM3-CDG

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 10956MEDDRA 10051040MONDO 0018037MONDO 18037UMLS C3887645

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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