Table 1.

Demographic data of patients with RAB27A deficiency. Number of samples is denominator where data were available. Median with interquartile range (IQR) shown in age of onset/death)

Parameters (number of patients)	Results (%, or IQR)
Study total:	149 patients
Sex ratio, Male: Female	74:57 (50:38)
Age of onset (years)	1.5 (0.3-5)
Consanguinity	97 (65.1%)
Age of HLH diagnosis (years)	1.4 (0.4–4.1)
Age of death (years)	4.75 (0.96-10)
Overall mortality	50 (33.5%)
Late onset (≥ 10y)	16 (10.7%)
Molecular diagnosis:	139 patients
Protein-truncating variants (PTV)	56 (37.6%)
Hypomorphic variants (Missense)	41 (27.5%)
Other (compound PTV + missense)	42 (28.1%)