Associated Papers
Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis.
Ma CS et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK et al.
Journal of Clinical Immunology, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
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
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
Spectrum of Inborn errors of immunity in a cohort of 90 patients presenting with complications to BCG vaccination in India.
Yadav RM et al.
Scandinavian Journal of Immunology, 2021
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
Successful Matched Related Bone Marrow Transplantation in a Patient with Autosomal Dominant Interferon Gamma Receptor 1 Deficiency.
Zerbe CS et al.
Journal of Clinical Immunology, 2020
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA et al.
Journal of Clinical Immunology, 2020
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
Parackova Z 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
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.
Quispel WT et al.
Journal of Clinical Immunology, 2014