Hyperimmunoglobulin E syndrome

Hyperimmunoglobulin E syndrome (disorder)

active

Code	`191009009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20241101

Synonyms

HIES - hyperimmunoglobulin E syndrome
Hyper-IgE syndrome

Parents (3)

442459007Combined immunodeficiency disease disorder
782964007Genetic disease disorder
131136006Immunoglobulin above reference range finding

Children (10)

1351324009Autosomal dominant combined immunodeficiency due to ERBIN deficiency disorder
1351325005Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency disorder
1351326006Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency disorder
1351327002Autosomal recessive combined immunodeficiency due to IL6R deficiency disorder
1351328007Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency disorder
1351329004Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency disorder
1342372000Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency disorder
1336113009CADINS disease disorder
312514006Netherton syndrome disorder
1187623009PGM3-related congenital disorder of glycosylation disorder