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
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Clinical Finding
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Syndrome
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Gene Mutation
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exfoliative erythroderma
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Cornel-Netherton
|
SPINK5
|
|
|
Omenn
|
RAG1/2
|
|
|
severe combined immunodeficiency (SCID)
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ASA, CD3delta/epsilon, IL7R, JAK3, PNP, RAG1/2
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|
ichthyosis
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Cornel-Netherton
|
SPINK5
|
|
|
NEMO deficiency
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NEMO
|
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photosensitivity
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Bloom
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BLM
|
|
uritcaria
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TNF receptor associated periodic fever (TRAPS)
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TNFRSF1A
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|
|
familial cold autoinflammatory
|
NLRP3
|
|
|
Muckle Wells
|
NLRP3
|
where:
• NEMO = X chromosomal ectodermal dysplasia with immunodeficiency
