Cartilage-hair hypoplasia with T-cell dysfunction

Pediatr Int. 2022 Jan;64(1):e15080. doi: 10.1111/ped.15080.

Authors

Dan Tomomasa¹, Takeshi Sato², Tomonobu Hasegawa², Tomohiro Morio¹, Hirokazu Kanegane³

Affiliations

¹ Departments of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
² Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
³ Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

PMID: 35278261
DOI: 10.1111/ped.15080

No abstract available

Keywords: T-cell dysfunction; cartilage-hair hypoplasia.

MeSH terms

Hair* / abnormalities
Humans
Immunologic Deficiency Syndromes / complications
Immunologic Deficiency Syndromes / diagnosis
Osteochondrodysplasias* / complications
Osteochondrodysplasias* / congenital
Osteochondrodysplasias* / diagnosis
Primary Immunodeficiency Diseases* / diagnosis
T-Lymphocytes* / immunology

Supplementary concepts

Cartilage-hair hypoplasia