Description

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 


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