inborn error of immunity

Findings

No curated finding names inborn error of immunity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• immune system disorder

Narrower terms (41)

• A20 haploinsufficiency
• Aicardi-Goutieres syndrome
• autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
• B cell deficiency
• BENTA disease
• chronic mucocutaneous candidiasis
• combined immunodeficiency due to moesin deficiency
• combined immunodeficiency with faciooculoskeletal anomalies
• complement deficiency
• dendritic cell deficiency
• ectodermal dysplasia and immune deficiency
• familial isolated congenital asplenia
• hepatic veno-occlusive disease-immunodeficiency syndrome
• hereditary hemophagocytic lymphohistiocytosis
• IL10-related early-onset inflammatory bowel disease
• immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
• immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

Resolves to: inborn error of immunity

Also called

IEIinborn errors of immunityprimary immunodeficiency disease