Frontiers in Immunology
Volume 10, Issue JAN, 2019

A Syrian refugee in Iraq diagnosed as a case of IL12RB1 deficiency in Japan using dried blood spots (Article) (Open Access)

Al-Kzayer L.F.Y. , Yassin A.K. , Salih K.H. , Shigemura T. , Sano K. , Al-Simaani R.B.Y. , Tanaka M. , Nakazawa Y. , Okuno Y.*
  • a Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
  • b Department of Medicine, College of Medicine, Hawler Medical University, Erbil, Iraq
  • c Department of Pediatrics, College of Medicine, Sulaymaniyah Medical University, Sulaymaniyah, Iraq
  • d Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
  • e Department of Pathology, Iida Municipal Hospital, Iida, Japan
  • f Department of Pediatrics, Noorjan Medical Complex, Erbil, Iraq
  • g Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
  • h Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
  • i Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan

Abstract

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 2 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 bone marrow sample 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. © 2007 - 2019 Frontiers Media S.A. All Rights Reserved.

Author Keywords

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

Index Keywords

abdominal distension CD3 antigen erythrocyte sedimentation rate DNA extraction respiratory tract infection Toxoplasmosis iron deficiency anemia gastroenteritis urinary tract infection night sweat cachexia abdominal pain lymphadenitis hepatosplenomegaly human ascites cd4 antigen body weight loss loss of appetite lymphadenopathy leukocytosis azithromycin case report preschool child female tuberculosis clinical article refugee camp diarrhea Article cotrimoxazole streptomycin gene mutation neutrophil chemotaxis fever interleukin 12 receptor beta 1 deficiency isoniazid mesenteric lymphadenitis flow cytometry maculopapular rash thorax radiography interleukin 12 receptor beta1 computer assisted tomography immune deficiency rifampicin pyrazinamide dried blood spot testing bloody diarrhea Child
Link
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85061269002&doi=10.3389%2ffimmu.2019.00058&partnerID=40&md5=b92fff9523cf742fecd2dae31dd60299
DOI: 10.3389/fimmu.2019.00058
ISSN: 16643224
Cited by: 1
Original Language: English