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A Rare AIOLOS N160S Variant Causing IEI in Human

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References

  1. Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, et al. A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS. Nat Immunol. 2021;22(7):893–903. https://doi.org/10.1038/s41590-021-00951-z.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Kuehn HS, Chang J, Yamashita M, Niemela JE, Zou C, Okuyama K, et al. T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021;218(12): e20211118. https://doi.org/10.1084/jem.20211118.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  3. Kuehn HS, Sakovich IS, Niemela JE, Silva AAG, Stoddard JL, Polyakova EA, et al. Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains. J Clin Invest. 2023;(in press).

  4. Yamashita M, Morio T. AIOLOS variants causing immunodeficiency in human and mice. Front Immunol. 2022;13: 866582. https://doi.org/10.3389/fimmu.2022.866582.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Cai Y, Yin W. The multiple functions of B cells in chronic HBV infection. Front Immunol. 2020;11: 582292.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  6. Chang J, Yamashita M, Padhi AK, Zhang KYJ, Taniuchi I. Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function. Front Immunol. 2023;14:1239779. https://doi.org/10.3389/fimmu.2023.1239779.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, et al. Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations. J Allergy Clin Immunol. 2019;144(1):339–42. https://doi.org/10.1016/j.jaci.2019.03.025.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Allergy and Immunology, Department of Pediatrics, Research and Training Hospital of Sakarya University, Faculty of Medicine, Sakarya University, Adnan Menderes Cad., Sağlık Sok., No. 195, Adapazarı, Sakarya, 54100, Turkey

    Öner Özdemir & Ümmügülsüm Dikici

  2. Department of Genetics, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, 34766, Turkey

    Murat Hakkı Yarar

  3. Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan

    Motoi Yamashita & Tomohiro Morio

  4. Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

    Motoi Yamashita

Authors
  1. Öner Özdemir
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  2. Ümmügülsüm Dikici
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  3. Murat Hakkı Yarar
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  4. Motoi Yamashita
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  5. Tomohiro Morio
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Contributions

Conceived and designed the analysis: ÖÖ, ÜD, MHY. Collected the data: ÖÖ, ÜD, MHY. Contributed data or analysis tools: MHY, MY, TM. Performed the analysis: MHY, MY, TM. Wrote the paper: ÖÖ, MY, TM. Other contributions: ÖÖ, ÜD, MHY, MY, TM.

Corresponding author

Correspondence to Öner Özdemir.

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Özdemir, Ö., Dikici, Ü., Yarar, M.H. et al. A Rare AIOLOS N160S Variant Causing IEI in Human. J Clin Immunol 44, 57 (2024). https://doi.org/10.1007/s10875-024-01657-1

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