Multifocal M. Intracellulare Osteomyelitis in an Immunocompetent Child

Raszka, William V.; Trinh, Thu-Thao; Zawadsky, Peter

doi:10.1177/000992289403301007

Cited by 17 publications

(6 citation statements)

References 20 publications

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“…Other mutations in the immediate vicinity of 818del4 may also underlie AD IFN-γR1 deficiency (818delT, 794delT, E278X, 811del4, 774del4 and 805delT) [46, 120, 121, 125–130] (Figure 1). In total, 43 families containing 68 patients have been described, including four asymptomatic patients for the case-definition MSMD phenotype [41, 42, 46, 49, 86, 99, 120–123, 125–137]. Large amounts of IFN-γR1 protein are detected on the cell surface, due to the accumulation of truncated IFN-γR1 receptors lacking the recycling domain [120].…”

Section: Ifn-γr1 Deficiencymentioning

confidence: 99%

“…Generally, patients are susceptible to BCG or EM ( M. abcessus , M. avium complex, M. asiaticum , M. bohemicum , M. chelonei , M. gordonae , M. kansasii , M. scrofulaceum ) (Figure 4). In 72% of patients, the infection affects the bone and some patients even develop osteomyelitis with no other organ involvement [41, 42, 46, 49, 86, 99, 120–123, 125–137]. Two patients with mycobacterial osteomyelitis were initially incorrectly diagnosed as having Langerhans cell histiocytosis and received chemotherapy [138].…”

Section: Ifn-γr1 Deficiencymentioning

confidence: 99%

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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

600

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: Ifn-γr1 Deficiencymentioning

confidence: 99%

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

600

655

View full text Add to dashboard Cite

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“…Instead, the aberrant proteins interrupt the function of the wild-type protein, either by competition for the ligands or by effective inactivation of the wild-type protein through the formation of nonfunctional dimer. For example, the dominant-negative mutations from the IFNGR1 gene express stable truncated proteins 25,39–44. These truncated proteins have correct sequences for the extracellular and transmembrane domains, thus have the capability to compete for IFN-γ and dimerize with wild-type IFNγR1.…”

Section: Ifn-γ Signaling In Msmdmentioning

confidence: 99%

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases

Fisher‐Hoch

McCormick

2011

International Journal of Infectious Diseases

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Summary Understanding molecular immunity against mycobacterial infection is critical for the development of effective strategies to control tuberculosis (TB), which is a major health issue in the developing world. Host immunogenetic studies represent an indispensable approach to understand the molecular mechanisms against mycobacterial infection. A superb paradigm is the identification of rare mutations causing Mendelian susceptibility to mycobacterial diseases (MSMD). Mutations in the interferon-gamma (IFN-γ) receptor genes are highly specific (although not exclusive) for mycobacterial infection. Only dominant negative mutations of STAT1 have specific susceptibility to mycobacterial infection. Mutations in the interleukin-12 (IL-12) signaling genes have phenotypes with non-specificity. Current studies highlight a complex molecular network in antimycobacterial immunity, centered on IFN-γ signaling.

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“…In patients without immunode®ciency multifocal osteomyelitis is quite unusual and only few cases have been reported [3,5] However this clinical condition must be kept in mind since radiological and scintigraphic ®ndings may simulate neoplastic disease, in particular histiocytosis , thus leading to an invasive diagnostic approach. …”

Section: Discussionmentioning

confidence: 99%

Case of the month: a child with stiff neck

Rocco

Tasso

Fondelli

et al. 1997

European Journal of Pediatrics

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InformationA 9-year-old child was admitted to hospital with a 6-month history of progressive neck pain. On clinical examination the only ®nding was a sti neck with severe pain on rotation. Neurological evaluation failed to reveal any sign of spinal cord compression. The cervical lymphnodes were not enlarged, liver and spleen were of normal size and there was no fever.White blood cell count was 12.130/mm 3 (7.700 neutrophils), haemoglobin concentration 11.7 g/ dl, platelet count 480.000/mm 3 , C-reactive protein 1.81 mg/dl, IgG 2.630 mg/dl, IgA 240 mg/dl, IgM 313 mg/dl, thorax X-ray was negative. Technetium bone scanning de-Fig. 1 Scintigraphic images obtained 2 min after 99m Tc showing multiple abnormal uptakeFig. 2 Paramedian, sagittal, post-contrast spinal MRI showing enhancement wrapping upper cervical vertebral bodies and the atlanto-occipital jointFig. 3 Median, sagittal spine MRI showing lytic lesions of the T 9 vertebral body

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Multifocal M. Intracellulare Osteomyelitis in an Immunocompetent Child

Cited by 17 publications

References 20 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

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases

Case of the month: a child with stiff neck

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