B-cell Immunodeficiency in a Patient with Pearson Syndrome

Yu-Chia Chen¹, Shiann-Tarng Jou¹, Ni-Chung Lee^{1

2}, Bor-Luen Chiang^{1

3}, Hsin-Hui Yu⁴

Affiliations

¹ Department of Pediatrics, National Taiwan University Children's Hospital, No. 7, Zhongshan S. Road, Zhongzheng District, Taipei, 100, Taiwan.
² Department of Genetics, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Department of Pediatrics, National Taiwan University Children's Hospital, No. 7, Zhongshan S. Road, Zhongzheng District, Taipei, 100, Taiwan. yuhsinhui0121@ntu.edu.tw.

Yu-Chia Chen et al. J Clin Immunol. 2023 Feb.

. 2023 Feb;43(2):335-337.

doi: 10.1007/s10875-022-01406-2. Epub 2022 Nov 15.

Yu-Chia Chen¹, Shiann-Tarng Jou¹, Ni-Chung Lee^{1

2}, Bor-Luen Chiang^{1

3}, Hsin-Hui Yu⁴

¹ Department of Pediatrics, National Taiwan University Children's Hospital, No. 7, Zhongshan S. Road, Zhongzheng District, Taipei, 100, Taiwan.
² Department of Genetics, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Department of Pediatrics, National Taiwan University Children's Hospital, No. 7, Zhongshan S. Road, Zhongzheng District, Taipei, 100, Taiwan. yuhsinhui0121@ntu.edu.tw.

No abstract available

References

1. Farruggia P, Di Marco F, Dufour C. Pearson syndrome. Expert Rev Hematol. 2018;11(3):239–46. - DOI
1. Yoshimi A, Grünert SC, Cario H, Fisch A, Gross-Wieltsch U, Timmermann K, et al. Haematological characteristics and spontaneous haematological recovery in Pearson syndrome. Br J Haematol. 2021;193(6):1283–7. - DOI
1. Kapnick SM, Pacheco SE, McGuire PJ. The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism. Metabolism. 2018;81:97–112. - DOI
1. Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, Macaluso A, Valvo LL, et al. 2016 Pearson syndrome: a retrospective cohort study from the marrow failure study group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD Rep.26:37–43.
1. Inoue S, Yokota M, Nakada K, Miyoshi H, Hayashi J. Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiation. FEBS Lett. 2007;581(9):1910–6. - DOI