Condition Gene affected Function affected Associated feature
Griscelli
RAB27A
Uncontrolled T cell and macrophage activation; Defective docking
Albinism
Chediak Higashi LYST Defective biogenesis of cytolytic granules Albinism
Hermansky Pudlak AP3B1 Defective transport of cytolytic granules Albinism
X-linked lymphoproliferative disorder - 1
SH2D1A,
Signaling lymphocytic activation molecule-associated protein (SAP) deficiency- inappropriate lymphocyte recruitment
Immunodeficiency Requires HSCT
X – linked lymphoproliferative disorder - 2
BIRC4
Inhibition of apoptosis
Immunodeficiency Uveitis (rare) Requires HSCT