Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge
Background. Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains, as well as envir...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Infectious Diseases |
| Online Access: | http://dx.doi.org/10.1155/2022/6534009 |
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| author | Netsanet Azene Gebeyehu Solomie Jebessa Deribessa Freeman Alexandra Messay Tesfaye Demissie W Mihretu Gebre Aklilu Melaku Gebremariam Dagmawit Mitiku Engliz Tizita Yosef Kidane Lidya Million Bekele Abate Yeshidinber Weldetsadik |
| author_facet | Netsanet Azene Gebeyehu Solomie Jebessa Deribessa Freeman Alexandra Messay Tesfaye Demissie W Mihretu Gebre Aklilu Melaku Gebremariam Dagmawit Mitiku Engliz Tizita Yosef Kidane Lidya Million Bekele Abate Yeshidinber Weldetsadik |
| author_sort | Netsanet Azene Gebeyehu |
| collection | DOAJ |
| description | Background. Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains, as well as environmental mycobacteria (EM). The definitive diagnosis is made by genetic analysis. Treatments constitute antimycobacterial, interferon-gamma, surgery, and hematopoietic stem cell transplantation (HSCT), which is the only known curative treatment. The mortality rate ranges from 40% to 80% depending on the severity of the mutation. Case. A 13-year-old female patient had multiple hospital visits since the age of 6 months. The most striking diagnosis was repeated mycobacterial infections. She had tuberculosis affecting lymph nodes, skin and soft tissue, bone and joints, the lungs, and epidural and paraspinal regions. She has taken all the childhood vaccines, including BCG. She has been treated four times with first-line and once with second-line antituberculosis drugs. Currently, she is on treatment for nontuberculous mycobacteria and is receiving interferon-gamma. Genetic studies showed autosomal dominant Mendelian susceptibility to mycobacterial disease due to IFNG-R1 defect. Conclusion. To the authors’ knowledge, this is the first case report of Mendelian susceptibility to mycobacterial diseases secondary to interferon gamma receptor 1(IFNG-R1) defect in Ethiopia. Although it has been immensely challenging, our multidisciplinary team has learned a lot from the clinical presentation, diagnosis, and management of this child. |
| format | Article |
| id | doaj-art-c9e61fe28e41450c9cc72b38650bc3d9 |
| institution | Kabale University |
| issn | 2090-6633 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Infectious Diseases |
| spelling | doaj-art-c9e61fe28e41450c9cc72b38650bc3d92025-02-03T01:20:06ZengWileyCase Reports in Infectious Diseases2090-66332022-01-01202210.1155/2022/6534009Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment ChallengeNetsanet Azene Gebeyehu0Solomie Jebessa Deribessa1Freeman Alexandra2Messay Tesfaye Demissie3W Mihretu Gebre4Aklilu Melaku Gebremariam5Dagmawit Mitiku Engliz6Tizita Yosef Kidane7Lidya Million Bekele8Abate Yeshidinber Weldetsadik9Department of Dermatology and VenereologyPediatrics Infectious Disease SpecialistPrimary Immune Deficiency Clinic Laboratory of Clinical Immunology and Microbiology NIAIDDermatovenerologistDermatovenerologistDermatovenerologistDermatovenerologistDermatovenerologistPediatrics ResidentDivision of Pulmonary and Critical CareBackground. Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains, as well as environmental mycobacteria (EM). The definitive diagnosis is made by genetic analysis. Treatments constitute antimycobacterial, interferon-gamma, surgery, and hematopoietic stem cell transplantation (HSCT), which is the only known curative treatment. The mortality rate ranges from 40% to 80% depending on the severity of the mutation. Case. A 13-year-old female patient had multiple hospital visits since the age of 6 months. The most striking diagnosis was repeated mycobacterial infections. She had tuberculosis affecting lymph nodes, skin and soft tissue, bone and joints, the lungs, and epidural and paraspinal regions. She has taken all the childhood vaccines, including BCG. She has been treated four times with first-line and once with second-line antituberculosis drugs. Currently, she is on treatment for nontuberculous mycobacteria and is receiving interferon-gamma. Genetic studies showed autosomal dominant Mendelian susceptibility to mycobacterial disease due to IFNG-R1 defect. Conclusion. To the authors’ knowledge, this is the first case report of Mendelian susceptibility to mycobacterial diseases secondary to interferon gamma receptor 1(IFNG-R1) defect in Ethiopia. Although it has been immensely challenging, our multidisciplinary team has learned a lot from the clinical presentation, diagnosis, and management of this child.http://dx.doi.org/10.1155/2022/6534009 |
| spellingShingle | Netsanet Azene Gebeyehu Solomie Jebessa Deribessa Freeman Alexandra Messay Tesfaye Demissie W Mihretu Gebre Aklilu Melaku Gebremariam Dagmawit Mitiku Engliz Tizita Yosef Kidane Lidya Million Bekele Abate Yeshidinber Weldetsadik Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge Case Reports in Infectious Diseases |
| title | Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge |
| title_full | Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge |
| title_fullStr | Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge |
| title_full_unstemmed | Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge |
| title_short | Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge |
| title_sort | mendelian susceptibility to mycobacterial diseases msmd in a 13 year old ethiopian girl with autosomal dominant interferon gamma receptor 1 ifn γ r1 defect a clinical diagnostic and treatment challenge |
| url | http://dx.doi.org/10.1155/2022/6534009 |
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