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Metadata
ID DOID:0061076
Name immunodeficiency 107
Definition A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15.
https://pubmed.ncbi.nlm.nih.gov/35587511/
Xrefs

MIM:619986

Synonyms

immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

is_a lung disease

Subclass Logical Relationships

disease has location some lung and disease has location some (disease has location some zone of skin)

has material basis in some autosomal dominant inheritance

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