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: disseminated warts
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Clinical Findings
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Syndrome
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Gene
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flat and verrucous
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autosomal recessive hyper-IgE syndrome (HIES)
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DOCK8
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trunks and extremities with pityriasis versicolor-like macules
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epidermodysplasia verruciformis
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EVER1/2
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primarily on genitalia with early-onset dysplasia
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GATA2 defects
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GATA2
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primarily on hands and feet
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WHIM syndrome
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CXCR4
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other disseminated
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ICF syndrome
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DNMT38, ZBTB24
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mammalian sterile 20-like 1 deficiency
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MST1
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X-linked Hyper-IgM Syndrome
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CD154
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where:
• ICF syndrome = immunodeficiency, centromeric-instability and facial anomaly syndrome
