Ettinger et al reviewed skin conditions associated with primary immunodeficiencies.
The authors are from University Medical Center Regensburg and University Hospital of Cologne.
Patient selection: primary immunodeficiency with mucocutaneous candidiasis
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Syndrome
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Gene Mutated
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APECED syndrome (polyglandular autoimmune syndrome type 1)
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AIRE
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autosomal dominant HIES (Hiob/Job's syndrome)
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STAT3
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autosomal recessive HIES
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DOCK8
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chronic mucocutaneous candidiasis
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AIRE, CARD1, CANDN1, CLEC7A, IL17RA, IL17F, STAT1
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dectin-1 deficiency
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Dectin-1
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DiGeorge syndrome
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TBX1
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IL12/23 deficiency
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IL12B, IL12RB1
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severe combined immunodeficiency
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ADA, IL2RG, IL7RA, JAK3, DCLRE1C, RAG1/2, SMARCAL1
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T-lymphocytic defect
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IL2/IL2RG
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TYK2 deficiency
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TYK2
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Mammalian sterile 20-like 1 deficiency
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MST1
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