Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency
Mycobacterium simiae Infection in Mendelian Susceptibility to Mycobacterial Disease
-
Seyed Alireza Mahdaviani
,
Majid Marjani
,
Mahnaz Jamee
,
Armin Khavandegar
,
Hosseinali Ghaffaripour
,
Golnaz Eslamian
,
Mehdi Ghaini
,
Shabnam Eskandarzadeh
,
Jean-Laurent Casanova
,
Jacinta Bustamante
,
Davood Mansouri
,
Ali Akbar Velayati
Abstract
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-year-old boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.
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10. Hamieh A, Tayyar R, Tabaja H, S ELZ, Bou Khalil P, Kara N, et al. Emergence of Mycobacterium simiae: A retrospective study from a tertiary care center in Lebanon. PLoS One. 2018;13(4):e0195390.
11. Varghese B, Enani M, Shoukri M, AlJohani S, AlThawadi S, Al-Hajoj S. Burden of non-tuberculous mycobacterial diseases in Saudi Arabian children: The first nationwide experience. J Infect Public Health. 2019;12(6):803-8.
12. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381-402.
13. Martinez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, et al. Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-gammaR2 deficiency. J Clin Immunol. 2014;34(8):904-9.
14. Braue J, Murugesan V, Holland S, Patel N, Naik E, Leiding J, et al. NF-kappaB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria. Mediterr J Hematol Infect Dis. 2015;7(1):e2015010.
2. Alodayani AN, Al-Otaibi AM, Deswarte C, Frayha HH, Bouaziz M, AlHelale M, et al. Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia. J Clin Immunol. 2018;38(3):278-82.
3. Karassova V, Weissfeiler J, Krasznay E. Occurrence of atypical mycobacteria in Macacus rhesus. Acta microbiologica Academiae Scientiarum Hungaricae. 1965;12(3):275-82.
4. Jabbour JF, Hamieh A, Sharara SL, Kanj SS. Mycobacterium simiae: Harmless colonizer or deadly pathogen? PLoS pathogens. 2020;16(4):e1008418.
5. Hashemi-Shahraki A, Darban-Sarokhalil D, Heidarieh P, Feizabadi MM, Deshmir-Salameh S, Khazaee S, et al. Mycobacterium simiae: a possible emerging pathogen in Iran. Jpn J Infect Dis. 2013;66(6):475-9.
6. Nasiri MJ, Heidary M, Azimi T, Goudarzi H, Tabarsi P, Sarokhalil DD, et al. Mycobacterium simiae pulmonary disease in Iran: systematic review and meta-analysis. New microbes and new infections. 2018;26:118-23.
7. Patel NC, Minifee PK, Dishop MK, Munoz FM. Mycobacterium simiae cervical lymphadenitis. Pediatr Infect Dis J. 2007;26(4):362-3.
8. Baghizadeh A, Mehrian P, Farnia P. Computed Tomography Findings of Pulmonary Mycobacterium simiae Infection. Can Respir J. 2017;2017:6913564.
9. Coolen-Allou N, Touron T, Belmonte O, Gazaille V, Andre M, Allyn J, et al. Clinical, Radiological, and Microbiological Characteristics of Mycobacterium simiae Infection in 97 Patients. Antimicrob Agents Chemother. 2018;62(7).
10. Hamieh A, Tayyar R, Tabaja H, S ELZ, Bou Khalil P, Kara N, et al. Emergence of Mycobacterium simiae: A retrospective study from a tertiary care center in Lebanon. PLoS One. 2018;13(4):e0195390.
11. Varghese B, Enani M, Shoukri M, AlJohani S, AlThawadi S, Al-Hajoj S. Burden of non-tuberculous mycobacterial diseases in Saudi Arabian children: The first nationwide experience. J Infect Public Health. 2019;12(6):803-8.
12. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381-402.
13. Martinez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, et al. Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-gammaR2 deficiency. J Clin Immunol. 2014;34(8):904-9.
14. Braue J, Murugesan V, Holland S, Patel N, Naik E, Leiding J, et al. NF-kappaB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria. Mediterr J Hematol Infect Dis. 2015;7(1):e2015010.
| Files | ||
| Issue | Vol 20 No 3 (2021) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijaai.v20i3.6339 | |
| Keywords | ||
| Mycobacterium simiae Primary immunodeficiency | ||
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How to Cite
1.
Mahdaviani SA, Marjani M, Jamee M, Khavandegar A, Ghaffaripour H, Eslamian G, Ghaini M, Eskandarzadeh S, Casanova J-L, Bustamante J, Mansouri D, Velayati AA. Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency. Iran J Allergy Asthma Immunol. 2021;20(3):376-381.
