Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father

Frontiers in Immunology

Immunology

Omaima Abdelmajeed¹  Muna Mohammed Dawoud Ali²  Shima Algam³  Alamin Mustafa³  Rogaia Hasap Alrasoul Ahmed⁴  Yassin Abdelraheem Ahmed⁴  Malaz Elsadeg Hassan⁴  Hala Hamza Eltayeb Mohammed⁴  Monzir Ahmed⁴  Nahla Hashim Erwa⁵ 

[1] Department of Pediatrics, Omdurman Islamic University, Omdurman, Sudan;Department of Pediatrics, Tropical and Infectious Diseases, College of Medicine, University of Science and Technology, Khartoum, Sudan;Faculty of Medicine, Al-Neelain University, Khartoum, Sudan;Faculty of Medicine, Omdurman Islamic University, Omdurman, Sudan;Faculty of Medicine, University of Khartoum, Khartoum, Sudan;

关键词: immunology;    bacille Calmette–Guérin (BCG) vaccine;    Mendelian susceptibility to mycobacterial diseases;    tuberculosis;    IL12RB1;   

DOI  :  10.3389/fimmu.2023.1135824

 received in 2023-01-01, accepted in 2023-03-13,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionMendelian susceptibility to mycobacterial disease (MSMD) is a rare inherited condition characterized by selective susceptibility to weakly virulent mycobacteria, such as substrains of the bacille Calmette–Guérin (BCG) vaccine and different environmental mycobacteria.Case presentationA 7-year-old Sudanese boy was referred to the immunology clinic with a suspected diagnosis of MSMD. This followed multiple presentations with disseminated tuberculosis and typhoid fever. Genetic testing surprisingly revealed pathogenic homozygous variants in IL12RB1 Exon 9, c.913A>T (p. Lys305*) in both the patient and his father, with a completely healthy asymptomatic carrier mother who is not blood related to the patient’s father.ConclusionIt is challenging to diagnose MSMD, especially in developing countries where health systems are poor and have limited resources. Family history and genetic tests may help in early MSMD treatment and avoiding disease complications.

【 授权许可】

Unknown   
Copyright © 2023 Abdelmajeed, Ali, Erwa, Mustafa, Ahmed, Ahmed, Mohammed, Hassan, Ahmed and Algam