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 hyper- or hypopigmentation
Types of changes in skin pigmentation:
(1) patchy hypopigmentation
(2) hypopigmented skin
(3) cafe au lait macules with adjacent hypopigmented areas (twin spotting)
(4) cafe au lait spots
(5) oculocutaneous albinism
(6) partial albinism
(7) reticular pigmentation (peri-oral, neck, chest)
|
Type
|
Syndrome
|
Genes Mutated
|
|
patchy hypopigmented
|
APECED
|
AIRE
|
|
|
Chediak-Higashi
|
LYST
|
|
|
Common variable immunodeficiency
|
CD19, CD81, CR3, ICOS, IL21, LRBA, MS4A1, NFKB2, TNFRSF13B/C
|
|
|
DiGeorge syndrome
|
TB1
|
|
hypopigmented skin
|
XLA =X-linked agammaglobulinemia
|
BTK
|
|
cafe au lait with hypopigmented skin
|
Bloom syndrome
|
BLM
|
|
|
CHARGE syndrome
|
CHD7
|
|
cafe au lait spots
|
PMS2 defect
|
PMS2
|
|
oculocutaneous albinism
|
Hermansky-Pudlak syndrome
|
AP3B1
|
|
|
LIG4 syndrome
|
LIG4
|
|
|
Nijmegen breakage syndrome
|
NBS1
|
|
partial albinism
|
P14/LAMTOR2 deficiency
|
ROBLD3, LAMTOR2
|
|
reticular pigmentation
|
dyskeratosis congenita
|
ACD, CTC1, DKC1, NHP2, RTEL1, NOP10, PARN, TCAB1, TERC/T, TINF2
|
|
|
Fanconi syndrome
|
FANCA-G, FANCI/L/M, BRIP1, PALB2, RAD51C, SLX4, ERCC4
|
|
|
Griscelli syndrome type 2
|
RAB27A
|
