primary immunodeficiency disease

Term ID

DOID:612

Synonyms

hypoimmunity
immune deficiency disorder
immunodeficiency syndrome

Definition

An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases

References

ICD10CM:D84.9
ICD9CM:279.3
KEGG:05340
MESH:D007153
NCI:C39725
OMIM:242850
OMIM:PS300755
SNOMEDCT_US_2023_03_01:191005003
UMLS_CUI:C0021051

Ontology

Human Disease ( DOID:612 )

Relationships

is a type of: immune system disease

immune system disease Show first 5 Terms
has subtype: autoimmune disease autosomal dominant familial periodic fever B cell deficiency combined immunodeficiency complement deficiency ... Show All 38 Terms

autoimmune disease autosomal dominant familial periodic fever B cell deficiency combined immunodeficiency complement deficiency dendritic cell deficiency ectodermal dysplasia and immune deficiency epidermodysplasia verruciformis familial Behcet-like autoinflammatory syndrome familial cold autoinflammatory syndrome immunodeficiency 18 immunodeficiency 20 immunodeficiency 21 immunodeficiency 27A immunodeficiency 27B immunodeficiency 28 immunodeficiency 29 immunodeficiency 31A immunodeficiency 31B immunodeficiency 31C immunodeficiency 35 immunodeficiency 38 immunodeficiency 39 immunodeficiency 42 immunodeficiency 43 immunodeficiency 44 immunodeficiency 45 immunodeficiency 47 immunodeficiency 51 immunodeficiency 57 immunodeficiency 65 immunodeficiency 66 lymphoproliferative syndrome NK cell deficiency phagocyte bactericidal dysfunction T cell and NK cell immunodeficiency T cell deficiency WHIM syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations