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 granuloma formation
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Clinical Finding
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Syndrome
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Gene Mutation
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well-defined
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ataxia telangiectasia (Louis Bar Syndrome)
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ATM
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non-necrotizing with pigmented macrophages
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chronic granulomatous disease
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CYBA/B, NCG1/2/4
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non-necrotizing, sarcoid like
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common variable immunodeficiency (CVID)
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CD19, C981, CR3, ICOS, IL21, LRBA, MS4A1, NFKB2, TNFRSF13B/C
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cartilage-hair-hypoplasia (RMRP deficiency)
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RMRP
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MHC class I deficiency
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TAP1/2, TAPBP
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Omenn Syndrome
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RAG1/2
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X-linked agammaglobulinemia (XLA)
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BTK
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where:
• RMRP is RNA component of mitochondrial RNA-processing endoribonuclease deficiency.
