An Overlapping Syndrome of Allergy and Immune Deficiency in Children

Table 1

Primary immune Deficiencies and their genetic background, associated with T-cell dysfunction and aberrant IgE production.

Primary immune deficiencies with elevated IgE
T-cell dysfunction	Immune deficiency	Genetic background
Treg cell deficiency	Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)	Forkhead box protein 3 (Foxp3) signal transducer and activator of transcription 5b (STAT5b)CD25
Treg cell dysfunction	Wiskott-Aldrich syndrome (WAS)	Wiskott-Aldrich syndrome protein (WASP)
Treg cell deficiency T-cell oligoclonality	Omenn syndrome (OS)	recombination activation genes (RAG1,RAG2) Artemis IL-7R zeta-associated protein, 70 kD (ZAP-70,) DNA ligase
Reduced NK cell cytotoxicityskewed Th1 phenotype	Comel-Netherton syndrome (CNS)	Serin protease inhibitor Kazal type (SPINK) lymphoepithelial Kazal type inhibitor (LEKTI)
T-cell oligoclonality	DiGeorge syndrome (DGS)—atypical complete form	Microdeletion 22q11
Reduced Th17 cells Treg cell dysfunctionmultiple cytokine signaling defect	Hyperimmunoglobulin E syndrome (HIES)	Signal transducer and activator of transcription 3 (STAT3) dedicator of cytokinesis 8 (DOCK8) tyrosine kinase 2 (Tyk2)