A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

Bustamante, Jacinta; Pïcard, Capucine; Fieschi, Claire; Filipe-Santos, Orchidée; Feinberg, Jacqueline; Perronne, Christian; Chapgier, Ariane; Beaucoudrey, Ludovic de; Vogt, Guillaume; Sanlaville, Damien; Lemainque, Arnaud; Émile, Jean-François; Abel, Laurent; Casanova, Jean‐Laurent

doi:10.1136/jmg.2006.043406

Cited by 54 publications

(45 citation statements)

References 35 publications

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“…Patients with Mendelian susceptibility to mycobacterial disease (MSMD) are generally healthy but suffer from disease caused by low virulence mycobacteria as well as tuberculosis [2]. Although MSMD is most frequently a result of complete IL-12Rβ1, IFN-γR1 and IL-12p40 deficiency [2], there are potentially other pathways involved [5]. While patients with deficiencies can be treated, this is not always successful [6].…”

Section: Importance Of Il-12 In Immunity To Mycobacterial Infection Imentioning

confidence: 99%

Interleukin-12 and tuberculosis: an old story revisited

Cooper

Solache²,

Khader

2007

Current Opinion in Immunology

126

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Section: Importance Of Il-12 In Immunity To Mycobacterial Infection Imentioning

confidence: 99%

Interleukin-12 and tuberculosis: an old story revisited

Cooper

Solache²,

Khader

2007

Current Opinion in Immunology

126

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“…Mycobacterial infections are observed commonly in patients with severe forms of primary immunodeficiency, including severe combined immune deficiency (SCID), complete Di George syndrome, X-linked hyper immunoglobulin (Ig)-M syndrome (HIGM type 1, CD154 deficiency), CD40 deficiency, immune deficiencies accompanying ectodermal dysplasia (nuclear factor kappa-beta essential modulator (NEMO), IKBA), chronic granulomatous disease (CGD), interleukin 12-interferon gamma (IL-12/IFN-γ) receptor disorders, and hyper IgE syndrome, and these diseases have been examined under the title of Mendelian Susceptibility to Mycobacterial Diseases (MSMD) (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). In this group of patients, non-tuberculosis mycobacteriae are predominantly observed.…”

Section: Introductionmentioning

confidence: 99%

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Severcan¹,

Karaca²,

Aksu³

et al. 2017

Turk Pediatri Ars

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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.

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“…15 These two mutations cause selective functional impairment of superoxide production limited to monocyte-derived macrophages and B cells, although Review normal superoxide formation in fresh monocytes and granulocytes is maintained. 15,99 However, the production of interleukin 12 and interferon γ in peripheral blood mononuclear cells from patients in response to BCG is normal. A fl ow cytometric dihydrorhodamine 123 assay can be used to measure intracellular hydrogen peroxide production, which is defective in macrophages and B cells, but not in granulocytes or monocytes from patients with CYBB defi ciency.…”

Section: Cybb Encodes the Gp91mentioning

confidence: 99%

Host susceptibility to non-tuberculous mycobacterial infections

Holland

2015

The Lancet Infectious Diseases

197

175

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Non-tuberculous mycobacteria cause a broad range of clinical disorders, from cutaneous infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated infections at all ages. Recognition of the underlying immune defect is crucial for rational treatment, preventive care, family screening, and, in some cases, transplantation. So far, at least seven autosomal mutations (in IL12B, IL12RB1, ISG15, IFNGR1, IFNGR2, STAT1, and IRF8) and two X-linked mutations (in IKBKG and CYBB), mostly presenting in childhood, have been reported to confer susceptibility to disseminated non-tuberculous mycobacterial infection. GATA2 defi ciency and antiinterferon γ autoantibodies also give rise to disseminated infection, typically in late childhood or adulthood. Furthermore, isolated pulmonary non-tuberculous mycobacterial infection has been increasing in prevalence in people without recognised immune dysfunction. In this Review, we discuss how to detect and diff erentiate host susceptibility factors underlying localised and systemic non-tuberculous mycobacterial infections.

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A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

Cited by 54 publications

References 35 publications

Interleukin-12 and tuberculosis: an old story revisited

Interleukin-12 and tuberculosis: an old story revisited

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Host susceptibility to non-tuberculous mycobacterial infections

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