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Trait

Combined immunodeficiency

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

HPO HP:0005387

Summary

Body system
Abnormality of the immune system

26 genes linked to Combined immunodeficiency

Changes in these genes cause rare conditions in which Combined immunodeficiency is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
CD19CD19 moleculeAlwaysIn 2 conditions
CR2complement C3d receptor 2AlwaysIn 1 condition
ICOSinducible T cell costimulatorAlwaysIn 1 condition
ICOSLGinducible T cell costimulator ligandAlwaysIn 1 condition
IL2RGinterleukin 2 receptor subunit gammaAlwaysIn 1 condition
IRF2BP2interferon regulatory factor 2 binding protein 2AlwaysIn 1 condition
ITPR3inositol 1,4,5-trisphosphate receptor type 3AlwaysIn 1 condition
MS4A1membrane spanning 4-domains A1AlwaysIn 1 condition
NFKB2nuclear factor kappa B subunit 2AlwaysIn 1 condition
RNU6ATACRNA, U6atac small nuclearAlwaysIn 1 condition
TNFRSF13BTNF receptor superfamily member 13BAlwaysIn 1 condition
TNFRSF13CTNF receptor superfamily member 13CAlwaysIn 2 conditions
KNSTRNkinetochore localized astrin (SPAG5) binding proteinOften (30–79%)In 1 condition
NFKB1nuclear factor kappa B subunit 1Often (30–79%)In 1 condition
PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit deltaOften (30–79%)In 1 condition
PIK3R1phosphoinositide-3-kinase regulatory subunit 1Often (30–79%)In 1 condition
DIAPH1diaphanous related formin 1Sometimes (5–29%)In 1 condition
FOXN1forkhead box N1Sometimes (5–29%)In 1 condition
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseSometimes (5–29%)In 1 condition
ACP5acid phosphatase 5, tartrate resistantNot recordedIn 1 condition
AK2adenylate kinase 2Not recordedIn 1 condition
BUB1BBUB1 mitotic checkpoint serine/threonine kinase BNot recordedIn 1 condition
DOCK2dedicator of cytokinesis 2Not recordedIn 1 condition
IKZF1IKAROS family zinc finger 1Not recordedIn 1 condition
RAG1recombination activating 1Not recordedIn 1 condition
RAG2recombination activating 2Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Decreased immune function

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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