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Metadata
ID DOID:0061064
Name immunodeficiency 94
Definition A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
https://pubmed.ncbi.nlm.nih.gov/33517393/
Xrefs

MIM:619750

Synonyms

immunodeficiency 94 with autoinflammation and dysmorphic facies [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

existence starts during some Infantile onset

has material basis in some autosomal dominant inheritance

has material basis in some gain_of_function_variant

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