Table 1 Patient population participating in this study.

From: Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

Experiment

Group

N; (Male/Female)

Age (years ± SD)

Phenotype (% IBD;% lung fibrosis)

CyTOF

HPS-1

8 (4/4)

44 ± 12

25% PF

Controls

12 (5/7)

47 ± 14

 

Serum proteomics

HPS-1

11 (3/8)

39 ± 14

18% PF; 36% IBD

Controls

50 (26/24)

35 ± 9

 

Transcriptomics

HPS-1

4 (2/2)

36 ± 8

25% PF

Controls

4 (2/2)

26 ± 1

 

Functional experiments

HPS-1

10 (7/3)

41 ± 11

10% PF

Controls

12 (8/4)

37 ± 12

 

Spatial transcriptomics

HPS-1

1 (0/1)

8

IBD

  1. IBD inflammatory bowel disease; PF pulmonary fibrosis.