Griscelli syndrome
Autoszomális recesszív
Partial albinism with silvery hair; type 1 (MYO5A) involves neurological problems, type 2 (RAB27A) causes life-threatening immune overactivation (HLH), and type 3 (MLPH) affects pigmentation only.
Mit változtat a diagnózis
Type 2 needs prompt specialist care and usually stem cell transplantation.
Más néven
ChC)diak-Higashi-like syndrome; Chédiak-Higashi-like syndrome; Griscelli disease; Griscelli-PruniC)ras syndrome; Griscelli-Pruniéras syndrome; partial albinism-immunodeficiency syndrome
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Griscelli syndrome type 1
- Griscelli syndrome type 2
- Griscelli syndrome type 3
