Term Name: primary immunodeficiency disease
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.
Ontology: Human Disease [DOID:612]   ( DOID:612 )

Relationships
is a type of: immune system disease
has subtype: autoimmune disease autoinflammation, antibody deficiency, and immune dysregulation syndrome 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 1 WHIM syndrome 2