Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father
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-...
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1135824/full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Omaima Abdelmajeed |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T20:20:52Z |
| format | Article |
| id | doaj.art-5e2ee4ca3a684b7f86284959ae6a8842 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-09T20:20:52Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-5e2ee4ca3a684b7f86284959ae6a88422023-03-31T05:11:29ZengFrontiers Media S.A.Frontiers in Immunology1664-32242023-03-011410.3389/fimmu.2023.11358241135824Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his fatherOmaima Abdelmajeed0Muna Mohammed Dawoud Ali1Nahla Hashim Erwa2Alamin Mustafa3Yassin Abdelraheem Ahmed4Rogaia Hasap Alrasoul Ahmed5Hala Hamza Eltayeb Mohammed6Malaz Elsadeg Hassan7Monzir Ahmed8Shima Algam9Department of Pediatrics, Omdurman Islamic University, Omdurman, SudanDepartment of Pediatrics, Tropical and Infectious Diseases, College of Medicine, University of Science and Technology, Khartoum, SudanFaculty of Medicine, University of Khartoum, Khartoum, SudanFaculty of Medicine, Al-Neelain University, Khartoum, SudanFaculty of Medicine, Omdurman Islamic University, Omdurman, SudanFaculty of Medicine, Omdurman Islamic University, Omdurman, SudanFaculty of Medicine, Omdurman Islamic University, Omdurman, SudanFaculty of Medicine, Omdurman Islamic University, Omdurman, SudanFaculty of Medicine, Omdurman Islamic University, Omdurman, SudanFaculty of Medicine, Al-Neelain University, Khartoum, SudanIntroductionMendelian 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.https://www.frontiersin.org/articles/10.3389/fimmu.2023.1135824/fullimmunologybacille Calmette–Guérin (BCG) vaccineMendelian susceptibility to mycobacterial diseasestuberculosisIL12RB1 mutation |
| spellingShingle | 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 Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father Frontiers in Immunology immunology bacille Calmette–Guérin (BCG) vaccine Mendelian susceptibility to mycobacterial diseases tuberculosis IL12RB1 mutation |
| title | Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father |
| title_full | Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father |
| title_fullStr | Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father |
| title_full_unstemmed | Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father |
| title_short | Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father |
| title_sort | autosomal recessive il12rb1 mutation a case report of a sudanese child and his father |
| topic | immunology bacille Calmette–Guérin (BCG) vaccine Mendelian susceptibility to mycobacterial diseases tuberculosis IL12RB1 mutation |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1135824/full |
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