Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease

Pediatr Allergy Immunol. 2022 Feb;33(2):e13748. doi: 10.1111/pai.13748.

Authors

Keigo Matsuyuki¹, Mizuki Ide¹, Keishirou Houjou¹, Saho Shima¹, Seiji Tanaka¹, Yoriko Watanabe¹, Hiroyuki Tomino², Tomoko Egashira², Toshimitsu Takayanagi², Katsuya Tashiro³, Ken Okamura⁴, Tamio Suzuki⁴, Takayuki Miyamoto⁵, Hirofumi Shibata⁵, Takahiro Yasumi⁵, Ryuta Nishikomori¹

Affiliations

¹ Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
² Department of Pediatrics, National Hospital Organization Saga National Hospital, Saga, Japan.
³ Department of Pediatrics, Karatsu Red Cross Hospital, Karatsu, Japan.
⁴ Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
⁵ Graduate School of Medicine, Department of Pediatrics, Kyoto University, Kyoto, Japan.

PMID: 35212049
DOI: 10.1111/pai.13748

No abstract available

Keywords: AP3B1 mutation; hemophagocytic lymphohistiocytosis; interstitial lung disease; neonatal; patients with Hermansky-Pudlak syndrome.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Protein Complex 3 / genetics
Adaptor Protein Complex beta Subunits / genetics
Hermanski-Pudlak Syndrome* / genetics
Humans
Infant, Newborn
Lung Diseases, Interstitial* / genetics
Mutation

Substances

AP3B1 protein, human
Adaptor Protein Complex 3
Adaptor Protein Complex beta Subunits