We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father.
- Authors
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
- 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-Gue'rin (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 testsmay help in earlyMSMD treatment and avoiding disease complications.
- Subjects
MYCOBACTERIAL diseases; THERAPEUTICS; DISEASE susceptibility; SUDANESE; GENETIC testing; TYPHOID fever
- Publication
Frontiers in Immunology, 2023, Vol 14, p1
- ISSN
1664-3224
- Publication type
Article
- DOI
10.3389/fimmu.2023.1135824