Enfermedad por bacilo de Calmette-Guérin (BCG) y deficiencia del receptor &amp;#946;-1 de interleuquina 12: Experiencia clínica de dos casos en una familia y un caso aislado

Strickler, Alexis; Pérez, Amir; Risco, Migdy; Gallo, Silvanna

doi:10.4067/s0716-10182014000400010

Cited by 13 publications

(13 citation statements)

References 26 publications

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“…Indeed, 47 of the 179 patients died (26%), 8 are asymptomatic (the oldest being 22 years old in 2010) and 124 were alive at the time of their description, the oldest of these patients being 51 years old in 2010 [28, 198]. Mycobacterial infections are the most frequent infections observed in these patients (BCG, M. avium , M. avium intracellulare complex, M. chelonae , M. fortuitum , M. fortuitum - chelonae complex, M. genevense , M. gordonae , M. tilburgii , M. triplex , M. simiae ) [28, 34, 36, 86, 116, 190, 193, 194, 198, 199, 204, 206, 208–210, 214, 215, 235, 236]. Remarkably, BCG vaccination or disease protects against subsequent EM disease [28, 194] (Figure 5).…”

Section: Complete Il-12rβ1 Deficiencymentioning

confidence: 99%

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Bustamante

Boisson–Dupuis

Abel

et al. 2014

Seminars in Immunology

591

655

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Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-γ-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-γ. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-γ-dependent immunity.

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Section: Complete Il-12rβ1 Deficiencymentioning

confidence: 99%

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Bustamante

Boisson–Dupuis

Abel

et al. 2014

Seminars in Immunology

591

655

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“…La vacuna BCG es una vacuna de germen vivo atenuado que contiene una cepa de Mycobacterium bovis. 1 Desarrollada en 1920, es, en la actualidad, la única vacuna antituberculosa disponible. Tiene demostrada eficacia en prevenir formas diseminadas de la enfermedad y meningitis tuberculosa.…”

Section: Discussionunclassified

“…Tiene documentada eficacia en prevenir formas diseminadas de la enfermedad (tuberculosis miliar) y la meningitis tuberculosa. 1 Su indicación precisa es en recién nacidos de países con alta prevalencia de tuberculosis.…”

Section: Introductionunclassified

Enfermedad por bacilo de Calmette-Guérin a distancia en un lactante. Presentación de un caso

et al. 2019

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Presentación de casos clínicos RESUMENLa vacuna con el bacilo de Calmette-Guérin es una vacuna atenuada utilizada para prevenir formas graves de tuberculosis. Se aplica a los recién nacidos en países con alta prevalencia de tuberculosis. Pueden presentarse, después de su aplicación, complicaciones a nivel local, como supuración o adenopatías regionales. La enfermedad por diseminación del bacilo es infrecuente y ocurre, por lo general, en pacientes con alteraciones inmunitarias subyacentes. Se presenta el caso de un niño de 5 meses que ingresó por un cuadro de 2 meses de evolución con detención del aumento de peso y nódulos subcutáneos. Se sospechó enfermedad por diseminación del bacilo y se diagnosticó por la biopsia de las lesiones. Se realizó el tratamiento con tres drogas antituberculosas, y se recuperó clínicamente. Si bien se realizaron estudios inmunológicos, no logró demostrarse ninguna inmunodeficiencia como afección predisponente.

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“…On the other hand, inherited immune system defects, such as Mendelian susceptibility to mycobacterial diseases syndromes (MEMS), in which there are defects in the axis IL-12/IN-γ, can be a major cause of fungal and mycobacterial associations, as in the patient of the clinical case; although it would be expected that these patients present, since their birth, a history of oral, skin and enteral fungal infections, with a very important fact, as it is the presence of axillary lymphadenitis and disseminated mycobacterial infection with the implementation of the BCG vaccine, and pigmented purpuric dermatosis 8 , data that were not found in our patient.…”

Section: Dear Editormentioning

confidence: 99%

Authors Response: Tuberculosis and pulmonary candidiasis co-infection present in a previously healthy patient

Fontalvo

Borré²,

Camargo

et al. 2016

Colomb Med

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In response to the note about the case described 1, we fully agree that immunodeficiency is not only the relationship with HIV infection, and that there are pathologies and different immunological and genetic conditions associated with it 2-4; the main ones were discarded in the patient. In the patient of the presented clinical case, there is no family history of primary immunodeficiencies. And in her personal history, there were not found any data related to recurrent infectious processes, either in childhood or present, which does not lead to suspicion of diseases with primary immunodeficiencies, in which recurrent infections would be expected as in the case of recurrent pneumonia, lung, spleen and liver abscesses, cervical, axillary and inguinal lymphadenitis, or bone and skin infections, as in the case of chronic granulomatous disease 5. For other primary immunodeficiencies provided by the reader, such as the case of X-linked agammaglobulinemia, this is a congenital disease that affects males and involves B lymphocytes and plasma cells, which are not the primary immune line in tuberculosis6, nor does it correspond to our case.

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Enfermedad por bacilo de Calmette-Guérin (BCG) y deficiencia del receptor β-1 de interleuquina 12: Experiencia clínica de dos casos en una familia y un caso aislado

Cited by 13 publications

References 26 publications

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Enfermedad por bacilo de Calmette-Guérin a distancia en un lactante. Presentación de un caso

Authors Response: Tuberculosis and pulmonary candidiasis co-infection present in a previously healthy patient

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