Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease

Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease

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 i...

Full description

Bibliographic Details
Main Authors:	Maria J. Gutierrez MD, Neelu Kalra MD, Alexandra Horwitz MD, Gustavo Nino MD
Format:	Article
Language:	English
Published:	SAGE Publishing 2016-11-01
Series:	Journal of Investigative Medicine High Impact Case Reports
Online Access:	https://doi.org/10.1177/2324709616675463

Similar Items

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease
by: William Rae, et al.
Published: (2016-01-01)

Case Report: Anti-interferon-γ autoantibodies in an adolescent with disseminated Talaromyces marneffei and mycobacterial co-infections
by: Bingkun Li, et al.
Published: (2025-02-01)

Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency
by: Mustafa Çakan, et al.
Published: (2016-10-01)

Type I Interferon Receptor on NK Cells Negatively Regulates Interferon-γ Production
by: Amanda J. Lee, et al.
Published: (2019-06-01)

Interferon Gamma in Sickness Predisposing to Mycobacterial Infectious Diseases
by: Betül Gemici Karaaslan, et al.
Published: (2024-09-01)

The somatic mutations in Interferon-γ signal molecules in human uterine leiomyosarcoma
by: Hayashi, Takuma, et al.
Published: (2018)

The Establishment of a Novel γ-Interferon In Vitro Release Assay for the Differentiation of <i>Mycobacterial Bovis</i>-Infected and BCG-Vaccinated Cattle
by: Yuhao Zhao, et al.
Published: (2024-04-01)

Amplification of poly(I:C)-induced interleukin-6 production in human bronchial epithelial cells by priming with interferon-γ
by: Norikazu Okuma, et al.
Published: (2023-11-01)

The Unresolved Role of Interferon-λ in Asthma Bronchiale
by: Nina Sopel, et al.
Published: (2017-08-01)

Infliximab Therapy Leading to Pulmonary Tuberculosis in a Patient With Negative Interferon γ Release Assay (IGRA)-Based QuantiFERON Gold Test
by: Soni Parita MD, et al.
Published: (2017-07-01)

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge
by: Netsanet Azene Gebeyehu, et al.
Published: (2022-01-01)

Increased Interferon-Induced Protein With Tetracopeptides (IFITs) Reduces Mycobacterial Growth
by: Abhilasha Madhvi, et al.
Published: (2022-07-01)

Interferon-γ and tumor growth
by: A. L. Ilyushin, et al.
Published: (2023-09-01)

Nontuberculous mycobacterial infections: a potential complication of cosmetic procedures
by: Tiara Hypolite, MD, et al.
Published: (2015-02-01)

T cell receptor recognition of CD1b presenting a mycobacterial glycolipid
by: Stephanie Gras, et al.
Published: (2016-10-01)

Imaging findings of vertebral osteomyelitis caused by nontuberculous mycobacterial organisms
by: Xiao Jing Yu, MD, et al.
Published: (2022-06-01)

Infection Source and Epidemiology of Nontuberculous Mycobacterial Lung Disease
by: Doosoo Jeon, M.D.
Published: (2019-04-01)

Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran
by: Roya Sherkat, et al.
Published: (2019-01-01)

Rett syndrome: interferon-γ to the rescue?
by: Richard R Meehan, et al.
Published: (2024-11-01)

Interferon-γ: The Jekyll and Hyde of Malaria.
by: Thayer King, et al.
Published: (2015-10-01)

Interferon status in estimating the therapy of bronchial asthma with immunomodulating preparations
by: T. P. Ospelnikova, et al.
Published: (2019-08-01)

The right apical tracheal bronchus with bronchial leiomyoma
by: Yu Zhang, MD, et al.
Published: (2022-04-01)

Idiopathic lymphoplasmacellular mucositis of the vulva in a patient with partial interferon-γ receptor 1 deficiency
by: Kuan-Yu Chen, et al.
Published: (2019-01-01)

Mycobacterial Signaling through Toll-like Receptors
by: Joyoti eBasu, et al.
Published: (2012-11-01)

Interferon-γ Inhibits Ebola Virus Infection.
by: Bethany A Rhein, et al.
Published: (2015-01-01)

Interaction of tumor necrosis factor-alpha and interferon-gamma with bronchial phagocytic cells in non-allergic bronchial asthma patients
by: A. B. Pirogov, et al.
Published: (2024-11-01)

Early presentation of undifferentiated pleomorphic cardiac sarcoma
by: Azin Alizadehasl, MD, et al.
Published: (2024-10-01)

Schwannoma response to interferon alpha
by: Jennifer Novak, et al.
Published: (2017-12-01)

Clinical features of mesotherapy-associated non-tuberculous mycobacterial infections: A systematic review
by: Melissa E. Singsing, BSA, et al.
Published: (2022-12-01)

Bronchial rhinosporidiosis: An unusual presentation
by: Hansa Banjara, et al.
Published: (2012-01-01)

Efficiency of Interferon-γ in Activating Dendritic Cells and Its Potential Synergy with Toll-like Receptor Agonists
by: Yuanzhi Bian, et al.
Published: (2023-05-01)

Interferon-γ induces immunoproteasomes and the presentation of MHC I-associated peptides on human salivary gland cells.
by: Martha E Arellano-Garcia, et al.
Published: (2014-01-01)

Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies
by: Shiyang Li, et al.
Published: (2024-04-01)

Misdiagnosed Asthma Turned Out to Be Bronchial Fibroepithelial Polyp: Case Report and Review of Literature
by: Deeb Salahaldeen MD, et al.
Published: (2024-04-01)

Prominent dyspigmentation in a patient with dermatomyositis and TIF1-γ autoantibodies
by: Daniel Gutierrez, MD, et al.
Published: (2022-04-01)

Hemoptysis after coil embolization for pulmonary arteriovenous malformation: Histopathological confirmation of bronchial epithelium extension
by: Takashi Yanagihara, MD, et al.
Published: (2022-06-01)

Diagnosis of bronchial artery aneurysm by computed tomography: a case report
by: So Hyeon Bak, MD, et al.
Published: (2017-09-01)

Mycobacterial Adhesion: From Hydrophobic to Receptor-Ligand Interactions
by: Albertus Viljoen, et al.
Published: (2022-02-01)

Effectiveness of bronchial thermoplasty in patients with asthma exhibiting overweight/obesity and low quality of life
by: Kenta Nishi, MD, et al.
Published: (2023-03-01)

Interferon-γ induces senescence in normal human melanocytes.
by: Suiquan Wang, et al.
Published: (2014-01-01)