Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

(2018) Ana Esteve-Solé et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004–2017)

(2018) Qinhua Zhou et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

(2018) Jérémie Rosain et al.   IMMUNOLOGY AND CELL BIOLOGY

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

(2018) Xiao-Fei Kong et al.   NATURE IMMUNOLOGY

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database

(2017) Esther van de Vosse et al.   HUMAN MUTATION

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients

(2017) Maryam Alinejad Dizaj et al.   IMMUNOGENETICS

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Bécégites de l’enfant : diagnostic, classification et exploration

(2016) M. Kourime et al.   ARCHIVES DE PEDIATRIE

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

(2016) Inge C. de Vor et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

(2015) Bianca Tesi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Host susceptibility to non-tuberculous mycobacterial infections

(2015) Un-In Wu et al.   LANCET INFECTIOUS DISEASES

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Clinical Characteristics and Immunogenetics of BCGosis/BCGitis in Chinese Children: A 6 Year Follow-Up Study

(2014) Wenjing Ying et al.   PLoS One

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency

(2013) Hannelore I. Bax et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

(2011) Takayuki Hoshina et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Prevalence of tuberculosis drug resistance in 10 provinces of China

(2009) Guang Xue He et al.   BMC INFECTIOUS DISEASES

Chinese Patients with Defective IL-12/23-Interferon-γ Circuit in Taiwan: Partial Dominant Interferon-γ Receptor 1 Mutation Presenting as Cutaneous Granuloma and IL-12 Receptor β1 Mutation as Pneumatocele

(2008) Wen-I Lee et al.   JOURNAL OF CLINICAL IMMUNOLOGY