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Metadata
ID DOID:0061077
Name immunodeficiency 108
Definition A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.
https://pubmed.ncbi.nlm.nih.gov/31201888/
Xrefs

MIM:260570
Synonyms

immunodeficiency 108 with autoinflammation [EXACT]
Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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