immunodeficiency 107

Term ID

DOID:0061076

Synonyms

immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection

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/

References

MIM:619986

Ontology

Human Disease ( DOID:0061076 )

Relationships

is a type of: autosomal dominant disease lung disease primary immunodeficiency disease

autosomal dominant disease lung disease primary immunodeficiency disease Show first 5 Terms

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Genes Involved

Zebrafish Models