Versions
- 2021-02-11 (3)
- 2021-02-09 (2)
- 2021-02-09 (1)
Keywords
Coronavirus Infections
Calmette-Guérin bacillus vaccine
Abstract
Background: Inborn errors of immunity manifest with a greater susceptibility to infections, autoimmunity, autoinflammatory diseases, allergies, or malignancies. One of these is the mendelian susceptibility to mycobacterial disease. The most frequent etiology is the complete autosomal recessive deficiency of the β1 subunit of the interleukin 12 receptor.
Case report: A female patient who, by the age of six months, started with a nodular lesion in the right shoulder and ipsilateral axillary adenitis after the bacillus Calmette-Guérin vaccine was applied. Later, she developed a cutaneous fistula in the anterior thorax, the inframammary region, and chronic recidivant suppurative lymphadenitis. A disseminated infection caused by Mycobacterium bovis was diagnosed, therefore, individualized pharmacological treatment was required due to failure with the primary treatment. The patient was diagnosed with deficiency in the β1 subunit of the interleukin 12 receptor at age six. During her last hospitalization, she presented fever, cough, and tachypnea, and SARS-CoV-2 was detected by quantitative polymerase chain reaction. The patient has had a favorable evolution.
Conclusion: In patients with disseminated infections caused by bacillus Calmette-Guérin vaccination or by environmental mycobacteria, there should be suspicion of an inborn error of immunity and the patient should be referred to a third level hospital for an early immunological assessment.
References
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Etzioni A, Franco JL, et al. Correction to: human Inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):65. DOI: 10.1007/s10875-020-00763-0
Reed B, Dolen WK. The child with recurrent mycobacterial disease. Curr Allergy Asthma Rep. 2018;18(8):44. DOI: 10.1007/s11882-018-0797-3
Rosain J, Kong XF, Martínez-Barricarte R, Oleaga-Quintas C, Ramírez-Alejo N, Markle J, et al., Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol. 2019;97(4):360-367. DOI: 10.1111/imcb.12210
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med. 1996;335(26):1956-1961. DOI: 10.1056/NEJM199612263352604
Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Levin M, et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996;335(26):1941-1949. DOI: 10.1056/NEJM199612263352602
Bustamante J. Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet. 2020;139(6-7):993-1000. DOI: 10.1007/s00439-020-02120-y
Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, et al. Inherited human IFN-γ deficiency underlies mycobacterial disease. J Clin Invest. 2020;130(6):3158-3171. DOI: 10.1172/JCI135460
Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, et al. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018;3(30):eaau6759. DOI: 10.1126/sciimmunol.aau6759
Trinchieri G. Interleukin-12: a cytokine at the interface of inflammation and immunity. Adv Immunol. 1998;70:83-243. DOI: 10.1016/s0065-2776(08)60387-9
Flynn JL, Chan J, Triebold KJ, Dalton DK, Stewart TA, Bloom BR. An essential role for interferon gamma in resistance to Mycobacterium tuberculosis infection. J Exp Med. 1993;178(6):2249-2254. DOI: 10.1084/jem.178.6.2249
Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucourey L, Feinberg J, et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18(6):347-361. DOI: 10.1016/j.smim.2006.07.010
Van de Vosse E, Haverkamp HM, Ramírez-Alejo N, Martínez-Gallo M, Blancas-Galicia L, Metin A, et al. IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat. 2013;34(10):1329-1339. DOI: 10.1002/humu.22380
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Feinberg J, Boisson-Dupuis S, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381-402. DOI: 10.1097/MD.0b013e3181fdd832
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot D, Syridou G, et al. A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency. J Clin Immunol. 2018;38(5):617-627. DOI: 10.1007/s10875-018-0527-6
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Oleaga-Quintas C, Martínez-Barricarte R, Juan M, et al. Laboratory evaluation of the IFN-gamma circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease. Crit Rev Clin Lab Sci. 2018;55(3):184-204. DOI: 10.1080/10408363.2018.1444580
Holland SM. Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection. Microbes Infect. 2000;2(13):1579-1590. DOI: 10.1016/s1286-4579(00)01314-9
Alangari AA, Al-Zamil F, Al-Mazrou A, Al-Huhsen S, Boisson-Dupuis S, Kambal A, et al. Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency. Clin Dev Immunol. 2011;2011:691956. DOI: 10.1155/2011/691956
Tan C, Metin A, Keskin Ö, Tezcan Í, Sanal Ö, Çağdaş-Ayvaz D, et al. Clinical and genetic features of IL12Rb1 deficiency: single center experience of 18 patients. Turk J Pediatr. 2016;58(4):356-361. DOI: 10.24953/turkjped.2016.04.002
Patel S, Uppuluri R, Ravichandran N, Vellaichamy-Swaminathan V, Melacorde-Ramanan K, Raj R, Ravichandran N. Mendelian susceptibility to mycobacterial disease-Challenges in hematopoietic stem cell transplantation. Pediatr Blood Cancer. 2020;67(5):e28187. DOI: 10.1002/pbc.28187
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright (c) 2021 Revista Alergia México