Disseminated Mycobacterium scrofulaceum infection in a child with interferon-γ receptor 1 deficiency

Marazzi, Maria Grazia; Chapgier, Ariane; Defilippi, Anna Carla; Pistoia, Vito; Mangini, Sara; Savioli, C; Dell'Acqua, A; Feinberg, Jacqueline; Tortoli, Enrico; Casanova, Jean‐Laurent

doi:10.1016/j.ijid.2009.03.025

Cited by 29 publications

(19 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Most patients with IL12B, IL12RB1, NEMO, IFNGR1, IFNGR2 deficiencies present with mycobacterial infections and are diagnosed as a result of investigations for diseases that might cause a predisposition to mycobacterial infections. In most of these patients, BCG strain (M. bovis) or non-tuberculosis mycobacteriae including M. chelonea, M. fortuitum, M. mageritense, M. peregrinum, M. Smegmatis and M. scrofulaceum are observed (23)(24)(25)(26). In our study, 76% of our patients were diagnosed as having BCG-itis.…”

Section: Discussionmentioning

confidence: 49%

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Severcan¹,

Karaca²,

Aksu³

et al. 2017

Turk Pediatri Ars

View full text Add to dashboard Cite

Aim: Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in primary immunodeficiency diseases. Material and Methods:Patients under follow-up by Ege University Pediatric Immunology Department for severe combined and combined immunodeficiencies, interleukin 12/ interferon gamma receptor deficiency, nuclear factor kappa-beta essential modulator deficiency and chronic granulomatosis disease were evaluated retrospectively in terms of the frequency and characteristics of mycobacterial infections using a questionnaire form for demographic properties, clinical features and laboratory tests. Results: A diagnosis of mycobacterial infection was made clinically in a total of 25 patients including five (11.3%) of 45 patients who had severe combined immune deficiency, 12 (52.3%) of 21 patients who had chronic granulomatous disease, four patients (100%) who had interferon gamma receptor 2 partical deficiency, two patients (100%) who had interleukin 12 receptor beta 1 deficiency and one patient (100%) who had nuclear factor kapa-beta essential modulator deficiency. Mycobacterium strain could be typed in 14 (33%) of these 25 patients including Mycobacterium bovis, Mycobacterium chelonea, Mycobacterium elephantis, Mycobacterium fortuitum, and Mycobacterium tuberculosis. All patients were treated with anti-tuberculosis therapy. Thirty-six percent of these 25 patients underwent hematopoietic stem cell transplantation. Eight patients (five before, three after transplantation) died. Conclusions: Non-tuberculosis mycobacteria including mainly Mycobacterium bovis were observed with a higher rate compared to Mycobacterium tuberculosis in primary immunodeficiencies, especially in those affecting the interleukin 12/interferon gamma pathway. Early diagnosis of primary immunodeficiencies with neonatal screening program and preventing administration of the Bacille Calmette-Guerin vaccine in these patients is important.

show abstract

Section: Discussionmentioning

confidence: 49%

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Severcan¹,

Karaca²,

Aksu³

et al. 2017

Turk Pediatri Ars

View full text Add to dashboard Cite

show abstract

“…Plasma from patients contains high levels of IFN-γ [46, 104]. The clinical phenotype of the patients is characterized by early-onset, disseminated, life-threatening infections with BCG and/or EM (including species such as M. chelonae , M. fortuitum , M. mageritense , M. peregrinum , M. smegmatis , M. scrofulaceum ) (Figure 4) [46, 90, 95, 96]. M. tuberculosis was identified in two patients, including one who died from disseminated disease despite antibiotic treatment [46, 87].…”

Section: Ifn-γr1 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

Self Cite

608

655

View full text Add to dashboard Cite

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.

show abstract

“…Entre las manifestaciones clínicas descritas para las infecciones por M. scrofulaceum, se encuentran: adenopatías cervicales unilaterales (más frecuentemente en niños www.sochinf.cl Caso Clínico menores de 5 años) 5, 16 , parotiditis bilateral 17 , lesiones cutáneas (únicas o múltiples, tipo granuloma o absceso) 2 , conjuntivitis 18 , enfermedad pulmonar 19 e intratorácica 20 , derrame pericárdico 21 , hepatitis granulomatosa 18 , meningitis 18 , osteomielitis 2,18 y enfermedad diseminada 22 ; algunas de éstas en pacientes inmunocomprometidos con infección por VIH 17,23 , linfoma 24 , deficiencia del receptor 1 del interferón gamma 22 , lupus eritematoso sistémico 2 y pacientes sometidos a trasplantes 19 .…”

Section: Discussionunclassified