AUTHOR=Abdelmajeed Omaima , Ali Muna Mohammed Dawoud , Erwa Nahla Hashim , Mustafa Alamin , Ahmed Yassin Abdelraheem , Ahmed Rogaia Hasap Alrasoul , Mohammed Hala Hamza Eltayeb , Hassan Malaz Elsadeg , Ahmed Monzir , Algam Shima TITLE=Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father JOURNAL=Frontiers in Immunology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2023.1135824 DOI=10.3389/fimmu.2023.1135824 ISSN=1664-3224 ABSTRACT=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.