A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots

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

SARS-CoV-2-Associated Multisystem Inflammatory Syndrome in Children (MIS-C): A Case Report from Iraq

The novel coronavirus disease (COVID-19) continues to evolve. Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-associated multisystem inflammatory syndrome in children (MIS-C) is a rare post-COVID-19 complication that affects children with critical outcomes. Few MIS-C reports were available from Arab-Asian ethnicities. We here describe a presentation mimicking a head injury overlapping the manifestations of MIS-C in a child from Iraq. A 10-year-old boy presented with blunt trauma in a shock-like status, and a head injury was suspected. Since he was febrile two days before the trauma, another pathology was assumed. Imaging and laboratory evaluations were performed, and after excluding gross neurosurgical etiology, he was initially treated as a toxic shock syndrome. Meanwhile, he was deteriorating with continuous fever, impaired consciousness, and seizure on the following day. Although not considered initially, close monitoring with a multidisciplinary approach and serial investigations revealed that the child met the criteria of MIS-C. SARS-CoV-2 IgG was shown to be high, while the RT-PCR of COVID-19 was negative. Once he received immunoglobulin and methylprednisolone, he improved dramatically. In conclusion, this report aimed to increase awareness about MIS-C among health workers and emphasized the need for a multidisciplinary team approach in Iraq due to the importance of timely treatment