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

Article scientifique 2023 Anglais

Résumé

Introduction Mendelian 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 presentation A 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. Conclusion It 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.

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Abdelmajeed, O., Ali, M., Erwa, N., Mustafa, A., Ahmed, Y., Ahmed, R., Mohammed, H., Hassan, M., Ahmed, M., Algam, S. (2023). Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father. https://doi.org/10.3389/fimmu.2023.1135824

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Omaima Abdelmajeed Muna Mohammed Dawoud Ali Nahla Hashim Erwa Alamin Mustafa Yassin Abdelraheem Ahmed Rogaia Hasap Alrasoul Ahmed Hala Hamza Eltayeb Mohammed Malaz Elsadeg Hassan Monzir Ahmed Shima Algam

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