Description

Ettinger et al reviewed skin conditions associated with primary immunodeficiencies. One such pattern is eczema. The authors are from University Medical Center Regensburg and University Hospital of Cologne.


Patient selection: primary immunodeficiency with eczema

 

Skin Appearance

Gene Mutation

Syndrome

eczema with allergy

SPINK5

Comel-Netherton syndrome

neonatal papulopustular eruption with later eczema

STAT3

Hiob/Job's syndrome (autosomal dominant HIES)

neonatal papulopustular eruption with later eczema, driven by food allergy

DOCK8

autosomal recessive HIES

neonatal eczema

WAS

Wiskott-Aldrich syndrome

erythematous indurated papules and plaques with central atrophy or ulcer

ATM

ataxia-telangiectasia

 

CD19, CD81, CR3, ICOS, IL21, LRBA, MS4A1, NFKB2, TNFRSF13B/C

common variable immunodeficiency (CVID)

erythematous exudative or lichenified plaques (may evolve to exfoliative erythroderma)

FOXP3

IPEX syndrome

 

IGHA1/2

selective IgA deficiency

 

STAT5B

STAT5b deficiency

 

PGM3

PGM3 deficiency

 

where:

• HIES = hyper-IgE syndrome


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