Associated Papers
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK et al.
Journal of Clinical Immunology, 2023
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A et al.
Scientific Reports, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2
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.
Gebeyehu NA et al.
Case Reports in Infectious Diseases, 2022
Generalized Pustular Psoriasis in Patients with Interferon Gamma (IFN-γ) Receptor Deficiency and Mycobacterial Infection.
Xiao H et al.
Journal of Clinical Immunology, 2021
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2021
Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.
Taur PD et al.
Frontiers in Immunology, 2021
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA et al.
Journal of Clinical Immunology, 2020
Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.
Dotta L et al.
Frontiers in Immunology, 2020
Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic.
Prucha M et al.
Case Reports in Immunology, 2020
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al.
Clinical Genetics, 2018
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E et al.
Human Mutation, 2017
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