RESEARCH | IN OTHER JOURNALSSCIENCE sciencemag.org 6 DECEMBER 2019 • VOL 366 ISSUE 6470 1211-C
form of connective tissue dis-
order that had some features
of Ehlers-Danlos syndrome.
Whole-exome sequencing identi-
fied a loss-of-function splice-site
mutation in the MAPK8 gene
encoding c-Jun N-terminal
kinase 1 (JNK1) that causes JNK1
haploinsufficiency with auto-
somal dominant inheritance.
The complex clinic al phenotype
in these patients results from
defects in signaling downstream
of both interleukin-17 and trans-
forming growth factor–b (TGF-b)
cytokines. Thus, JNK1-mediated
signaling plays a critical role in
maintaining normal immunity to
Candida, and TGF-b promotes
homeostasis of connective tis-
sues. —IW
Sci. Immunol. 4 , eaax7965 (2019).
Published by AAAS