A deep intronic BTK variant underlies X-linked agammaglobulinemia

J Clin Immunol. 2024 Apr 5;44(4):89. doi: 10.1007/s10875-024-01694-w.

Authors

Shoichiro Tateishi¹, Shoichi Shimizu², Kunihiko Moriya³, Hirokazu Kanegane⁴, Kohsuke Imai¹

Affiliations

¹ Department of Pediatrics, National Defense Medical College (NDMC), Saitama, Japan.
² Department of Pediatrics, Nihon University Itabashi Hospital, Tokyo, Japan.
³ Department of Pediatrics, National Defense Medical College (NDMC), Saitama, Japan. moriya-k@ndmc.ac.jp.
⁴ Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

PMID: 38578404
DOI: 10.1007/s10875-024-01694-w

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Agammaglobulinemia* / diagnosis
Agammaglobulinemia* / genetics
Genetic Diseases, X-Linked* / diagnosis
Genetic Diseases, X-Linked* / genetics
Humans
Mutation / genetics

Supplementary concepts

Bruton type agammaglobulinemia

Grants and funding