Associated secretory biogenesis and mast cell phenotype

Type of SNARE protein responsible for vesicular trafficking


1. Familial Lymphohystiocytosis (FLH) type

a. FLH1


b. FLH2

Defect in cytotoxic granule protein perforin/pore forming protein


c. FLH3

Defects in SNARE accessory protein Munc13-4


d. FLH4

Defects in t-SNARE syntaxin-11


e. FLH5

Defects in SNARE accessory protein syntaxin Binding Protein-2 (Munc18-2) that belonging to SM family of fusion accessory protein

[90] [91]

2. Hermansky-Pudlak syndrome (HPS)

Pulmonary fibrosis―endosomes to lysosomes related defects

[92] [93]