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