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Front. Immunol. | doi: 10.3389/fimmu.2019.00058

IL12RB1 Deficiency in a Syrian Girl With a Refugee-Status in Iraq: Diagnosed in Japan Using FTA Cards

 Lika'a F. Al-Kzayer1, Ahmed K. Yassin2, Khalid H. Salih3,  Tomonari Shigemura1, Kenji Sano4, Ruwaid B. Al-Simaani5,  Miyuki Tanaka1, Yozo Nakazawa1 and  Yusuke Okuno6*
  • 1Department of Pediatrics, School of Medicine, Shinshu University, Japan
  • 2Department of medicine, Hawler Medical University, Iraq
  • 3Department of Pediatrics, College of Medicine, University of Sulaimani, Iraq
  • 4Department of Pathology, Iida Municipal Hospital, Japan
  • 5Department of Pediatrics, Noorjan Medical Center, Iraq
  • 6Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Japan

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare condition of primary immunodeficiency disorder. Interleukin-12 receptor β1 (IL12RB1) deficiency, is the most common genetic etiology of MSMD, which is characterized by the selective predisposition to clinical disease caused by weakly-virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines, and environmental non-tuberculous mycobacteria (NTM). To the best of our knowledge, this is the first case of IL12RB1 deficiency to be reported from Iraq. Our case is an 8-year-old Syrian girl, for first-cousin parents, with a refugee-status in the North of Iraq. She had a history of disseminated BCG infection two months after receiving BCG vaccine, in addition to repeated episodes of mild or severe illnesses, such as maculopapular skin rash, lymphadenopathy, gastroenteritis, meningitis and clinically diagnosed tuberculosis (TB) based on local TB-prevalence setting. Because of limited medical facilities in the war-torn countries; in Syria and Iraq, no diagnosis could be reached. We used Flinders Technology Associates (FTA) cards to transfer her bone marrow aspirate to Japan. A homozygous IL12RB1 mutation was detected by whole exome sequencing in Japan, using genomic-DNA extracted from dried blood spots on FTA filter paper. In conclusion, diagnosis of MSMD due to IL12RB1 deficiency was possible by transferring the FTA sample of the patient for genetic evaluation in Japan. Our report recalls the need of pediatricians in countries with TB-prevalence and high parental consanguinity, to consider IL12RB1 deficiency in the differential diagnosis of a child with clinical evidence of TB, especially with the history of disseminated BCG disease.

Keywords: IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases (MSMD), Bacillus Calmette-Guérin (BCG), Flinders Technology Associates (FTA), tuberculosis (TB), Non-tuberculous mycobacteria (NTM), Whole exome sequencing (WES), Iraq

Received: 20 Sep 2018; Accepted: 10 Jan 2019.

Edited by:

Sergio Rosenzweig, National Institutes of Health (NIH), United States

Reviewed by:

Alexandra Freeman, National Institutes of Health (NIH), United States
Gesmar R. Segundo, Federal University of Uberlandia, Brazil  

Copyright: © 2019 Al-Kzayer, Yassin, Salih, Shigemura, Sano, Al-Simaani, Tanaka, Nakazawa and Okuno. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Yusuke Okuno, Nagoya University Hospital, Center for Advanced Medicine and Clinical Research, Nagoya, Japan,