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 abscess
|
Clinical Feature
|
Syndrome
|
Genes Mutated
|
|
neutrophil defect
|
Chediak-Higashi Syndrome
|
LYST
|
|
|
chronic granulomatous disease
|
CYBA/B, NCF1/2/4
|
|
|
congenital cyclic neutropenia
|
ELA2, HAX1, G6PC3, VPS45A, JAGN1, GF11, GSD1b, CTSC, WAS
|
|
lack of pus and abnormal wound healing
|
leukocyte adhesion deficiency (LAD)
|
ITGB2, SLC35C1, FERMT3
|
|
|
neutrophilic specific granule deficiency
|
CEBPE, GF11
|
|
cold abscess
|
autosomal dominant hyper-IgE syndrome (HIES)
|
STAT3
|
|
|
autosomal recessive HIES
|
DOCK8
|
|
|
ICF syndrome
|
DNMT38, ZBTB24
|
|
perianal abscess
|
IL-10 defect
|
IL10, IL10RA/B
|
|
|
Papillon Levevre syndrome
|
Cathepsin C
|
|
|
X-linked agammaglobulinemia
|
BTK
|
|
|
X linked inhibitor of apoptosis deficiency
|
XLAP
|
|
|
Mammalian sterile 20-like 1 deficiency
|
MST1
|
