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Mendelian susceptibility to mycobacterial disease

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https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#1
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28516082/multifocal-recurrent-osteomyelitis-and-hemophagocytic-lymphohistiocytosis-in-a-boy-with-partial-dominant-ifn-%C3%AE-r1-deficiency-case-report-and-review-of-the-literature
#2
Aidé Tamara Staines-Boone, Caroline Deswarte, Edna Venegas Montoya, Luz María Sánchez-Sánchez, Jorge Alberto García Campos, Teodoro Muñiz-Ronquillo, Jacinta Bustamante, Francisco J Espinosa-Rosales, Saul Oswaldo Lugo Reyes
Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28450854/microbial-disease-spectrum-linked-to-a-novel-il-12r%C3%AE-1-n-terminal-signal-peptide-stop-gain-homozygous-mutation-with-paradoxical-receptor-cell-surface-expression
#3
Thais Louvain de Souza, Regina C de Souza Campos Fernandes, Juliana Azevedo da Silva, Vladimir Gomes Alves Júnior, Adelia Gomes Coelho, Afonso C Souza Faria, Nabia M Moreira Salomão Simão, João T Souto Filho, Caroline Deswarte, Stéphanie Boisson-Dupuis, Dara Torgerson, Jean-Laurent Casanova, Jacinta Bustamante, Enrique Medina-Acosta
Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by mycobacteria and other intramacrophagic bacteria (e.g., Salmonella and Klebsiella) and fungi (e.g., Histoplasma, Candida, Paracoccidioides, Coccidioides, and Cryptococcus). The hallmark of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or the lack of response to it. Mutations in the interleukin (IL)-12 receptor subunit beta 1 (IL12RB1) gene accounts for 38% of cases of MSMD...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28011069/alanine-scanning-mutagenesis-of-human-signal-transducer-and-activator-of-transcription-1-to-estimate-loss-or-gain-of-function-variants
#4
Reiko Kagawa, Ryoji Fujiki, Miyuki Tsumura, Sonoko Sakata, Shiho Nishimura, Yuval Itan, Xiao-Fei Kong, Zenichiro Kato, Hidenori Ohnishi, Osamu Hirata, Satoshi Saito, Maiko Ikeda, Jamila El Baghdadi, Aziz Bousfiha, Kaori Fujiwara, Matias Oleastro, Judith Yancoski, Laura Perez, Silvia Danielian, Fatima Ailal, Hidetoshi Takada, Toshiro Hara, Anne Puel, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, Satoshi Okada, Masao Kobayashi
BACKGROUND: Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil domain (CCD) and DNA-binding domain (DBD). Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF STAT1 mutation have mycobacterial disease, obscuring the functional significance of the identified STAT1 mutations...
December 14, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27996281/il-12r%C3%AE-1-defect-presenting-with-massive-intraabdominal-lymphadenopathy-due-to-mycobacterium-intracellulare-a-case-report
#5
Eda Kepenekli Kadayifci, Ayşe Karaaslan, Serkan Atici, Gülşen Akkoç, Safa Bariş, Nurhayat Yakut, Sevliya Öcal Demir, Orhan Kaya KÖksalan, Ahmet Soysal, Caroline Deswarte, Jacinta Bustamante, Jean-Laurent Casanova, Mustafa Bakir
Infections due to non-tuberculous mycobacteria species are problematic for people who have immundeficiency. Mendelian Susceptibility to Mycobacterial Diseases (MSMD) defines a group of genetic defects affecting cellular interactions and IFN-γ pathway. Patients with MSMD may present with disseminated infection due to Bacillus Calmette-Guerin vaccine strain, Mycobacterium tuberculosis complex, environmental NTM or Salmonella species. Atypical mycobacterial infections and deficient granuloma/giant-cell formation are important clues for MSMD especially in patients with the history of parental consanguineous marriage...
December 12, 2016: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/27868075/novel-mutation-of-interferon-%C3%AE-receptor-1-gene-presenting-as-early-life-mycobacterial-bronchial-disease
#6
Maria J Gutierrez, Neelu Kalra, Alexandra Horwitz, Gustavo Nino
Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations in the genes encoding IFNGR1 can be recessive or dominant and cause complete or partial receptor deficiency. We present the case of a 2½-year-old boy with a history of recurrent wheezing, diagnosed with endobronchial mycobacterial infection...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27856304/a-heterozygous-dominant-negative-mutation-in-the-coiled-coil-domain-of-stat1-is-the-cause-of-autosomal-dominant-mendelian-susceptibility-to-mycobacterial-diseases
#7
Masahiro Ueki, Masafumi Yamada, Kenta Ito, Yusuke Tozawa, Saeko Morino, Yuho Horikoshi, Hidetoshi Takada, Shimaa Said Mohamed Ali Abdrabou, Shunichiro Takezaki, Ichiro Kobayashi, Tadashi Ariga
Heterozygous dominant-negative mutations of STAT1 are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-binding domain, the SH2 domain, and the tail segment. In this study, we demonstrated the first coiled-coil domain (CCD) mutation of c.749G>C, p.G250A (G250A) in STAT1 as a genetic cause of AD-MSMD in a patient with mycobacterial multiple osteomyelitis. This de novo heterozygous mutation was shown to have a dominant-negative effect on the gamma-activated sequence (GAS) transcriptional activity following IFN-γ stimulation, which could be attributable to the abolished phosphorylation of STAT1 from the wild-type (WT) allele...
November 14, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27787193/the-role-of-host-genetics-and-genomics-in-tuberculosis
#8
Vivek Naranbhai
Familial risk of tuberculosis (TB) has been recognized for centuries. Largely through studies of mono- and dizygotic twin concordance rates, studies of families with Mendelian susceptibility to mycobacterial disease, and candidate gene studies performed in the 20th century, it was recognized that susceptibility to TB disease has a substantial host genetic component. Limitations in candidate gene studies and early linkage studies made the robust identification of specific loci associated with disease challenging, and few loci have been convincingly associated across multiple populations...
October 2016: Microbiology Spectrum
https://www.readbyqxmd.com/read/27141500/mendelian-susceptibility-to-mycobacterial-disease-due-to-il-12r%C3%AE-1-deficiency-in-three-iranian-children
#9
Shokouh Azam Sarrafzadeh, Maryam Mahloojirad, Maryam Nourizadeh, Jean-Laurent Casanova, Zahra Pourpak, Jacinta Bustamante, Mostafa Moin
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis...
March 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27114990/mendelian-susceptibility-to-mycobacterial-disease-due-to-il-12r%C3%AE-1-deficiency-in-three-iranian-children
#10
Shokouh Azam Sarrafzadeh, Maryam Mahloojirad, Maryam Nourizadeh, Jean-Laurent Casanova, Zahra Pourpak, Jacinta Bustamante, Mostafa Moin
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis...
February 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27018766/disseminated-bcg-osteomyelitis-related-to-stat-1-gene-deficiency-mimicking-a-metastatic-neuroblastoma
#11
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette- Guérin (BCG) vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, Nine genes including 7 autosomal (STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15 and IRF8) and two X-linked genes (NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about eighteen genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant INF-γ mediated immunity...
March 28, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26976630/il-12-drives-functional-plasticity-of-human-group-2-innate-lymphoid-cells
#12
Ai Ing Lim, Silvia Menegatti, Jacinta Bustamante, Lionel Le Bourhis, Matthieu Allez, Lars Rogge, Jean-Laurent Casanova, Hans Yssel, James P Di Santo
Group 2 innate lymphoid cells (ILC2) include IL-5- and IL-13-producing CRTh2(+)CD127(+)cells that are implicated in early protective immunity at mucosal surfaces. Whereas functional plasticity has been demonstrated for both human and mouse ILC3 subsets that can reversibly give rise to IFN-γ-producing ILC1, plasticity of human or mouse ILC2 has not been shown. Here, we analyze the phenotypic and functional heterogeneity of human peripheral blood ILC2. Although subsets of human CRTh2(+)ILC2 differentially express CD117 (c-kit receptor), some ILC2 surface phenotypes are unstable and can be modulated in vitro...
April 4, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/26908281/crohn-s-disease-evolution-epigenetics-and-the-emerging-role-of-microbiome-targeted-therapies
#13
REVIEW
Ersilia M DeFilippis, Randy Longman, Michael Harbus, Kyle Dannenberg, Ellen J Scherl
Crohn's disease (CD) is a chronic, systemic, immune-mediated inflammation of the gastrointestinal tract. Originally described in 1932 as non-caseating granulomatous inflammation limited to the terminal ileum, it is now recognized as an expanding group of heterogeneous diseases defined by intestinal location, extent, behavior, and systemic extraintestinal manifestations. Joint diseases, including inflammatory spondyloarthritis and ankylosing spondylitis, are the most common extraintestinal manifestations of CD and share more genetic susceptibility loci than any other inflammatory bowel disease (IBD) trait...
March 2016: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/26783113/erratum-to-intact-ifn-%C3%AE-r1-expression-and-function-distinguishes-langerhans-cell-histiocytosis-from-mendelian-susceptibility-to-mycobacterial-disease
#14
Willemijn T Quispel, Janine A Stegehuis-Kamp, Susy J Santos, Annelies van Wengen, Edward Dompeling, R Maarten Egeler, Esther van de Vosse, Astrid G S van Halteren
No abstract text is available yet for this article.
February 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/26242301/extrapulmonary-tuberculosis-mimicking-mendelian-susceptibility-to-mycobacterial-disease-in-a-patient-with-signal-transducer-and%C3%A2-activator-of-transcription-1-stat1-gain-of-function-mutation
#15
LETTER
Shinsuke Kataoka, Hideki Muramatsu, Yusuke Okuno, Yuta Hayashi, Yoko Mizoguchi, Miyuki Tsumura, Satoshi Okada, Masao Kobayashi, Chiaki Sano, Haruki Sato, Ichiro Oh-Iwa, Masahumi Ito, Daiei Kojima, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima
No abstract text is available yet for this article.
February 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/26173802/diagnostic-and-therapeutic-challenges-in-a-child-with-complete-interferon-%C3%AE-receptor-1-deficiency
#16
REVIEW
Peter Olbrich, Maria Teresa Martínez-Saavedra, José Maria Perez-Hurtado, Cristina Sanchez, Berta Sanchez, Caroline Deswarte, Ignacio Obando, Jean-Laurent Casanova, Carsten Speckmann, Jacinta Bustamante, Carlos Rodriguez-Gallego, Olaf Neth
Autosomal recessive (AR) complete Interferon-γ Receptor1 (IFN-γR1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about this rare but potentially fatal pathology, providing details regarding diagnosis, antimicrobial treatment, transplant performance, and outcome that may help to guide physicians caring for patients with AR complete IFN-γR1 or IFN-γR2 deficiency...
November 2015: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/26054576/disseminated-mycobacterium-avium-complex-infection-in-a-child-with-partial-dominant-interferon-gamma-receptor-1-deficiency-in-india
#17
Varun K Sharma, Gautham Pai, Caroline Deswarte, Rakesh Lodha, Sarman Singh, Liew Woei Kang, Chong Chia Yin, Jean-Laurent Casanova, Jacinta Bustamante, Sushil K Kabra
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe here a patient from India with disseminated infection due to Mycobacterium avium intracellulare (MAC) including multifocal osteomyelitis and BCG disease...
July 2015: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/25773213/non-tuberculous-mycobacteria-in-children-muddying-the-waters-of-tuberculosis-diagnosis
#18
REVIEW
Elisa López-Varela, Alberto L García-Basteiro, Begoña Santiago, Dirk Wagner, Jakko van Ingen, Beate Kampmann
Non-tuberculous mycobacteria (NTM) are a large family of acid-fast bacteria, widespread in the environment. In children, NTM cause lymphadenitis, skin and soft tissue infections, and occasionally also lung disease and disseminated infections. These manifestations can be indistinguishable from tuberculosis on the basis of clinical and radiological findings and tuberculin skin testing. A diagnostic and therapeutic problem for respiratory physicians and other clinicians is therefore evident, particularly in settings where childhood tuberculosis is common, and bacteriological confirmation of any mycobacterial disease is difficult because of low availability of laboratory services in low-resource settings and the inherent paucibacillary nature of mycobacterial disease in childhood...
March 2015: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/25574369/nf-%C3%AE%C2%BAb-essential-modulator-deficiency-leading-to-disseminated-cutaneous-atypical-mycobacteria
#19
Jonathan Braue, Vagishwari Murugesan, Steven Holland, Nishit Patel, Eknath Naik, Jennifer Leiding, Abraham Tareq Yacoub, Carlos N Prieto-Granada, John Norman Greene
NF-κB essential modulator (NEMO) is a kinase integral to the macrophage TNF-α pathway, which leads to the intracellular destruction of Mycobacteria species. Defects in the NEMO pathway result in spectrum of diseases, including but not limited to ectodermal dysplasia, Mendelian susceptibility to mycobacterial diseases, and incontinentia pigmenti. In addition, paucity of NEMO can lead to the inability to mount a proper immune response against opportunistic pyogenic and mycobacterial infections, leading to dissemination to various organ systems...
2015: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/25453225/mendelian-susceptibility-to-mycobacterial-disease-genetic-immunological-and-clinical-features-of-inborn-errors-of-ifn-%C3%AE-immunity
#20
REVIEW
Jacinta Bustamante, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova
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...
December 2014: Seminars in Immunology
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