标题
Mendelian susceptibility to mycobacterial disease: recent discoveries
作者
关键词
-
出版物
HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-02-05
DOI
10.1007/s00439-020-02120-y
参考文献
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。- Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
- (2019) Shokouh Azam Sarrafzadeh et al. JOURNAL OF CLINICAL IMMUNOLOGY
- A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate
- (2019) Mahsima Shabani et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity
- (2019) Laura Pöyhönen et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency
- (2019) Ankur Kumar Jindal et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry
- (2019) Gaspard Kerner et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
- (2019) Nicholas Hernandez et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease
- (2019) Xiaopei Zhou et al. PLoS One
- LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
- (2019) Jérémie Rosain et al. JOURNAL OF CLINICAL IMMUNOLOGY
- A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
- (2018) Jérémie Rosain et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Evaluation of interleukin-12 receptor β1 and interferon gamma receptor 1 deficiency in patients with disseminated BCG infection
- (2018) B. Pourakbari et al. ALLERGOLOGIA ET IMMUNOPATHOLOGIA
- Mendelian susceptibility to mycobacterial disease: 2014-2018 update
- (2018) Jérémie Rosain et al. IMMUNOLOGY AND CELL BIOLOGY
- Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl
- (2018) Ana Esteve-Sole et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency
- (2018) Xiao-Fei Kong et al. NATURE IMMUNOLOGY
- A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
- (2018) Carmen Oleaga-Quintas et al. HUMAN MOLECULAR GENETICS
- IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis
- (2018) Stéphanie Humblet-Baron et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
- (2017) Rodrigo Hoyos-Bachiloglu et al. JOURNAL OF CLINICAL INVESTIGATION
- IL-12 drives functional plasticity of human group 2 innate lymphoid cells
- (2016) Ai Ing Lim et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
- (2016) Davide Eletto et al. Nature Communications
- Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
- (2015) Stéphanie Boisson-Dupuis et al. IMMUNOLOGICAL REVIEWS
- Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
- (2015) Alexandra Y. Kreins et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
- (2015) S. Okada et al. SCIENCE
- Human IFNAR2 deficiency: Lessons for antiviral immunity
- (2015) Christopher J. A. Duncan et al. Science Translational Medicine
- 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
- Mechanism, specificity, and physiology of signal peptide peptidase (SPP) and SPP-like proteases
- (2013) Matthias Voss et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database
- (2013) Esther van de Vosse et al. HUMAN MUTATION
- Nontuberculous mycobacterial infections in children with inborn errors of the immune system
- (2013) Margje H. Haverkamp et al. JOURNAL OF INFECTION
- Innate Defects of the IL-12/IFN-γ Axis in Susceptibility to Infections by Mycobacteria and Salmonella
- (2013) Noé Ramirez-Alejo et al. JOURNAL OF INTERFERON AND CYTOKINE RESEARCH
- Inherited IL-12p40 Deficiency
- (2013) Carolina Prando et al. MEDICINE
- Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
- (2012) Xiao-Fei Kong et al. HUMAN MOLECULAR GENETICS
- B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8−dendritic cells require the intramembrane endopeptidase SPPL2A
- (2012) Hannes Bergmann et al. JOURNAL OF EXPERIMENTAL MEDICINE
- The intramembrane protease SPPL2a promotes B cell development and controls endosomal traffic by cleavage of the invariant chain
- (2012) Janna Schneppenheim et al. JOURNAL OF EXPERIMENTAL MEDICINE
- The intramembrane protease Sppl2a is required for B cell and DC development and survival via cleavage of the invariant chain
- (2012) Daniel R. Beisner et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome
- (2012) Sara S. Kilic et al. JOURNAL OF PEDIATRICS
- Mycobacterial Disease and Impaired IFN- Immunity in Humans with Inherited ISG15 Deficiency
- (2012) D. Bogunovic et al. SCIENCE
- 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
- A novel form of human STAT1 deficiency impairing early but not late responses to interferons
- (2010) X.-F. Kong et al. BLOOD
- Revisiting Human IL-12Rβ1 Deficiency
- (2010) Ludovic de Beaucoudrey et al. MEDICINE
- A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
- (2009) Xiao-Fei Kong et al. HUMAN MOLECULAR GENETICS
- A partial form of recessive STAT1 deficiency in humans
- (2009) Ariane Chapgier et al. JOURNAL OF CLINICAL INVESTIGATION
- The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
- (2008) Saleh Al-Muhsen et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation
- (2008) Guillaume Vogt et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells
- (2008) Ludovic de Beaucoudrey et al. JOURNAL OF EXPERIMENTAL MEDICINE
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