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 with abnormality of hair color or structure

 

Hair Anomaly

Syndrome

Gene Affected

silvery hair

Chediak-Higashi syndrome

LYST

 

Griscelli syndrome type 2

RAB27A

white hair

Hermansky Pudlak syndrome type 2

AP3B1

bamboo hair

Comel-Netherton syndrome

SPINK5

folliculitis

IL-10 defects

IL10, IL10RA/B

 

IL17F-deficiency

IL17F

brittle hair

NEMO deficiency

NEMO

fine hair

SCID type Schimke

SMARCAL1

 


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