. Author manuscript; available in PMC: 2012 Aug 6.

Published in final edited form as: J Allergy Clin Immunol. 2009 Dec 29;125(2 Suppl 2):S297–S305. doi: 10.1016/j.jaci.2009.08.043

Table VI. Immunophenotypic findings and associated genetic defects in patients with SCID.

Phenotype	Pathway affected and genetic defect(s)
T⁻B⁺NK⁻	Cytokine signaling: IL-2 receptor γ, JAK3
T⁻B⁻NK⁺	DNA editing: RAG1/2, Artemis, ligase 4, Cernunnos
T⁻B⁻NK⁻	Metabolic defects: adenosine deaminase, AK2
T⁻B⁺NK⁺	Cytokine signaling: IL-7 receptor α chain
CD8⁺CD4⁻B⁺NK⁺	Positive selection/signaling: MHC class II, p56lck
CD4⁺CD8⁻B⁺NK⁺	Signaling: ZAP70

JAK3, Janus kinase 3; RAG, recombination-activating gene; AK2, adenylate kinase 2; ZAP70, zeta-chain associated protein kinase, 70 kD.