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 skin rash
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Clinical Finding
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Syndrome
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Gene Mutated
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maculopapular
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TNF receptor associated periodic fever (TRAPS)
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TNFRSF1A
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familial cold autoinflammatory syndrome
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NLRP3
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morbilliform
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severe combined immunodeficiency
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ADA, IL2RG, IL7RA, JAK3, DCLRE1C, RAF1/2, SMARCAL1
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CD4 lymphopenia
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IL2 deficiency
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IL2
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IL2R mutations
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IL2RG
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