4.6 Article

Novel mutations in genes of the IL-12/IFN-gamma axis cause susceptibility to tuberculosis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease A case report

Jie Zhang et al.

Summary: In this study, a novel mutation in the CYBB gene was identified in a patient with X-linked chronic granulomatous disease, expanding the knowledge of mutation spectrum. This finding contributes to genetic counseling and prenatal molecular diagnosis of X-CGD.

MEDICINE (2022)

Article Immunology

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Stuart G. Tangye et al.

Summary: The International Union of Immunological Societies Expert Committee has published an updated classification of inborn errors of immunity, which includes 55 novel monogenic gene defects and 1 phenocopy caused by autoantibodies. This update contributes to our understanding of the molecular, cellular, and immunological mechanisms of human immune diseases, and provides a resource for molecular diagnosis of heritable immunological disorders and scientific research on monogenic and related human immune diseases.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

Letter Immunology

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

Coline Bret Puvilland et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

Article Immunology

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India

Prasad D. Taur et al.

Summary: Mendelian Susceptibility to Mycobacterial diseases (MSMD) is a group of innate immune defects leading to increased susceptibility to intracellular pathogens like mycobacteria. A retrospective study on 55 MSMD patients in India reported the clinical, immunological, and molecular characteristics, highlighting disseminated BCG-osis as the most common presenting manifestation.

FRONTIERS IN IMMUNOLOGY (2021)

Article Infectious Diseases

Novel IL-β12R1 deficiency-mediates recurrent cutaneous leishmaniasis

Farhad Ali Khattak et al.

Summary: This study investigated genetic defects in the IL-12/IFN-gamma axis in cutaneous leishmaniasis patients, finding impaired IFN-gamma production and abolished IL-12R beta 1 surface expression in lymphocytes. Novel mutations in the IL-12/IFN-gamma axis genes were identified, causing inactivation of signaling pathways.

INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES (2021)

Article Immunology

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

Tom Le Voyer et al.

Summary: Autosomal recessive STAT1 deficiency is a severe genetic immune disorder that predisposes patients to viral and mycobacterial infections. Patients often suffer from mycobacterial diseases and severe viral episodes, with a higher mortality rate in those with complete STAT1 deficiency. Differentiation between complete and partial forms of AR STAT1 deficiency is crucial for clinical management and outcome.

JOURNAL OF IMMUNOLOGY (2021)

Article Multidisciplinary Sciences

Characterization of rifampicin-resistant Mycobacterium tuberculosis in Khyber Pakhtunkhwa, Pakistan

Anwar Sheed Khan et al.

Summary: This study conducted genetic analysis on isolates from a high TB endemic province in Pakistan, identifying mutations associated with multidrug-resistant TB. Additionally, internal resistance diversity and heteroresistance were observed, suggesting a complexity that may be linked to high transmission dynamics.

SCIENTIFIC REPORTS (2021)

Review Genetics & Heredity

Mendelian susceptibility to mycobacterial disease: recent discoveries

Jacinta Bustamante

HUMAN GENETICS (2020)

Article Multidisciplinary Sciences

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang et al.

SCIENCE (2020)

Review Cell Biology

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Jeremie Rosain et al.

IMMUNOLOGY AND CELL BIOLOGY (2019)

Article Immunology

Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis

Noor ul Akbar et al.

IMMUNOLOGIC RESEARCH (2019)

Article Pediatrics

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Ezgi Ulusoy et al.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS (2017)

Article Genetics & Heredity

IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

Esther van de Vosse et al.

HUMAN MUTATION (2013)

Article Multidisciplinary Sciences

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Stephanie Boisson-Dupuis et al.

PLOS ONE (2011)

Article Medicine, Research & Experimental

A partial form of recessive STAT1 deficiency in humans

Ariane Chapgier et al.

JOURNAL OF CLINICAL INVESTIGATION (2009)

Article Genetics & Heredity

Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutations

Francesca Fusco et al.

HUMAN MUTATION (2008)

Article Immunology

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

Orchidee Filipe-Santos et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2006)

Review Immunology

Defects in the interferon-γ and interleukin-12 pathways

SD Rosenzweig et al.

IMMUNOLOGICAL REVIEWS (2005)

Article Immunology

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against salmonella in humans

C MacLennan et al.

JOURNAL OF INFECTIOUS DISEASES (2004)

Review Genetics & Heredity

Ectodermal dysplasias:: a new clinical-genetic classification

M Priolo et al.

JOURNAL OF MEDICAL GENETICS (2001)