Autosomal Dominant Hyper Ige Syndrome

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

STAT3, DOCK8, IFNG, ZNF341, TYK2, IL6, PGM3, IL17A, IL37, IL10, TLR2, STK4, STAT1, STAT2, TWIST1, TNF, SOAT1, IL23A, SPP1, APCS, CCL2, KLK7, XIAP, MPO, SH2D1A, JAK3, IL12RB1, IL12B, CXCR2, IL4

STAT3, DOCK8, IFNG, ZNF341, TYK2, IL6, PGM3, IL17A, IL37, IL10, TLR2, STK4, STAT1, STAT2, TWIST1, TNF, SOAT1, IL23A, SPP1, APCS, CCL2, KLK7, XIAP, MPO, SH2D1A, JAK3, IL12RB1, IL12B, CXCR2, IL4, IGHG3, ICAM1, FLG, CSF2, LINC-ROR

Drugs

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Autosomal dominant hyper IgE syndrome (AD-HIES), formerly known as Job syndrome, affects several body systems including the immune system. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. Signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. The eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. Some cases of AD-HIES are caused by mutations in the STAT3 gene. In other cases, the cause is unknown.