Maternal Gonosomal Mosaicism Causes XIAP Deficiency

J Clin Immunol. 2023 Apr;43(3):525-527. doi: 10.1007/s10875-022-01414-2. Epub 2022 Nov 28.

¹ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
² Laboratory for Transcriptional Regulation, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
³ Clinical Research Center, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
⁴ Deparment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.

No abstract available

Keywords: Droplet digital PCR; Gonosomal mosaicism; XIAP deficiency.

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