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
|
