| Autor: |
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 |
| Předmět: |
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| Zdroj: |
Frontiers in Immunology; 3/31/2023, Vol. 14, p1-6, 6p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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