Table 1.
Primary Immunodeficiencies that associated with oculocutaneous albinism
| Locus | Oculocutaneous albinism | Bleeding disorders | Short stature | Neurological symptoms | HLH | Neutropenia | NKs defects | CTLs defects | Giant granules | |
|---|---|---|---|---|---|---|---|---|---|---|
| CHS |
CHS1 |
+ |
+ |
- |
+ |
+ |
+/-* |
+ |
+ |
+ |
| GS2 |
RAB27A |
+ |
- |
- |
- |
+ |
+/-* |
+ |
+ |
- |
| HPS2 |
ADTB3A |
+ |
+ |
- |
- |
+ |
+ |
+ |
+ |
- |
| HPS9 |
PLDN |
+ |
- |
- |
- |
- |
- |
+ |
N/A |
- |
| MAPBPIP deficiency | LAMTOR2 | + | - | + | - | - | + | + | + | - |
*Transient neutropenia can be observed.
CHS Chediak-Higashi syndrome; GS2 Griscelli syndrome type 2; HPS-2 Hermanski-Pudlak syndrome-type 2; HLH hemophagocytic lymphohistiocytosis.