Table 1.
Summary of clinical phenotype & genetic mutations.
| PAT | Mutation | EBV Immune status | Lymphoma | HLH | Metabolic Syndrome | |
|---|---|---|---|---|---|---|
| III | nd | abdominal pain, lactate acidosis | ||||
| IV | nd | BAL: 16469 copies/μg |
yes | no | ||
| V |
RAB27A +/m
(not analyzed: ACAD9+/m FBP1) |
6920 IU/ml | no | mildly increased creatine kinase | ||
| VI |
RAB27A m/m
ACAD9 m/m (not analyzed: FBP1) |
1620 IU/ml | yes | catabolic episodes | ||
| VII |
RAB27A +/m
(not analyzed: ACAD9+/m FBP1) |
no | no | mildly increased creatine kinase | ||
| VIII |
RAB27A m/m
FBP1 m/m ACAD9 m/m |
no | no | partial | increased creatine kinase and myopathy, abdominal pain and hypoglycemia, lactate acidosis | |
| IX |
RAB27A m/m
FBP1 m/m ACAD9 +/m |
14400 IU/ml | chronic-hypoplastic tonsilitis | abdominal pain and hypoglycemia, lactate acidosis | ||
nd, not done; m/m, mutated/mutated (homozygote); +/m = wild type/mutated (heterozygote).