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 and alopecia
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Clinical Features
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Syndrome
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Gene Mutation
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alopecia areata
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APECED syndrome
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AIRE
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atrichosis or hypotrichosis
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autosomal dominant ectodermal dysplasia with immunodeficiency
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IKBA
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very fine, light colored, sparse hair
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cartilage hair hypoplasia
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RMRP
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brittle hair and hypotrichosis
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X-linked chromosomal ectodermal dysplasia with immunodeficiency
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NEMO
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diffuse alopecia
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Omenn Syndrome
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RAG1/2
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alopecia universalis
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Winged helix deficiency
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FOXN1
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X-linked agammaglobulinemia
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BTK
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