DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection
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LETTER TO EDITOR
DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection Kazuaki Matsumoto 1 & Akihiro Hoshino 1 & Akira Nishimura 1 & Tamaki Kato 2 & Yoshio Mori 3 & Masaki Shimomura 4 & Chie Naito 4 & Kenichiro Watanabe 5 & Minoru Hamazaki 6 & Noriko Mitsuiki 1 & Masatoshi Takagi 1 & Kohsuke Imai 7 & Shigeaki Nonoyama 2 & Hirokazu Kanegane 8 & Tomohiro Morio 1 Received: 29 April 2020 / Accepted: 20 July 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abbreviations ALT Alanine aminotransferase AST Aspartate aminotransferase BMT Bone marrow transplantation CDR3 Complementarity-determining region 3 GVHD Graft-versus-host disease HSCT Hematopoietic stem cell transplantation iVDRV Immunodeficiency-related vaccine-derived rubella virus PID Primary immunodeficiency disease KRECs Kappa-deleting recombination excision circles PBMCs Peripheral blood mononuclear cells SCID Severe combined immunodeficiency TRECs T cell receptor excision circles VDRV Vaccine-derived rubella virus VZV Varicella-zoster virus
To the Editor, Persistent vaccine-derived rubella virus (VDRV) infection is infrequently observed in immunocompetent individuals [1,
2]; however, most cases of VDRV are noted in patients with primary immunodeficiency diseases (PIDs) [3]. Latter cases are called immunodeficiency-related VDRV (iVDRV), which is associated with cutaneous and occasionally visceral granuloma formation. Intriguingly, iVDRV is frequently found in patients with DNA repair disorders, including ataxia telangiectasia, Nijmegen breakage syndrome, DNA ligase IV deficiency, and Artemis deficiency [4]. Here, we describe a Japanese patient with DNA ligase IV deficiency identified by chance following iVDRV, in whom successful bone marrow transplantation (BMT) with immune reconstitution led to the eradication of the rubella virus. A 13-month-old Japanese girl presented with erythema on her cheeks and subsequent erythematous papules on her entire skin. She was born to nonconsanguineous Japanese parents at 39 gestational weeks. Her birth weight was 2040 g (− 2.84 SD), the height 44 cm (− 2.6 SD), and the head circumference 32 cm (− 0.97 SD). No recurrent or severe infection was noted after discharge. Her family history was negative for any hematologic or infectious diseases. Physical examination revealed mild hepatosplenomegaly and a bird-like facial
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00831-5) contains supplementary material, which is available to authorized users. * Hirokazu Kanegane [email protected] 1
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
2
Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan
3
Department of Virology III, National Institute of Infectious Diseases, Tokyo, Japan
4
Department of Allergy and Clinical Immunology, Shizuoka Children’s Hospital, Shizuoka, J
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