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Combined immunodeficiency

Disease ID:1178
Name:Combined immunodeficiency
Associated with:1 target
Description
Combined immunodeficiency evolving into predominant CD4+ lymphopenia

Targets

Janus kinase 3
Role:  Missense mutation in the kinase domain of JAK3 leads to JAK3 deficiency and manifests as combined immunodeficiency evolving into predominant CD4+ lymphopenia.

Ligands

No ligand related data available for Combined immunodeficiency