标题
IFN-γR1 defects: Mutation update and description of the IFNGR1
variation database
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 10, Pages 1286-1296
出版商
Wiley
发表日期
2017-07-26
DOI
10.1002/humu.23302
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。- Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency
- (2017) Sabah Boudjemaa et al. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
- 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
- Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum
- (2015) Li Gao et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
- (2015) Bianca Tesi et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Host susceptibility to non-tuberculous mycobacterial infections
- (2015) Un-In Wu et al. LANCET INFECTIOUS DISEASES
- Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review
- (2014) L. Taramasso et al. JOURNAL OF CLINICAL IMMUNOLOGY
- 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
- Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis
- (2013) O. Hirata et al. HAEMATOLOGICA
- A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection
- (2013) David M. Rose et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency
- (2013) Hannelore I. Bax et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Identifying the Initiating Events of Anti-Listeria Responses Using Mice with Conditional Loss of IFN- Receptor Subunit 1 (IFNGR1)
- (2013) S. H. Lee et al. JOURNAL OF IMMUNOLOGY
- Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent With Inherited STAT1 Deficiency
- (2013) Oded Shamriz et al. PEDIATRIC INFECTIOUS DISEASE JOURNAL
- Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
- (2012) Miyuki Tsumura et al. HUMAN MUTATION
- A novel internalization motif regulates human IFN-γR1 endocytosis
- (2012) Judith Yancoski et al. JOURNAL OF LEUKOCYTE BIOLOGY
- MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN
- (2012) Nermeen Galal et al. Mediterranean Journal of Hematology and Infectious Diseases
- Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
- (2011) Ithaisa Sologuren et al. HUMAN MOLECULAR GENETICS
- Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity
- (2011) Jérémy Manry et al. HUMAN MUTATION
- Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency
- (2010) Carolina Prando et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency
- (2010) M. Cardenes et al. JOURNAL OF MEDICAL GENETICS
- 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
- Genetic deficiencies of innate immune signalling in human infectious disease
- (2009) Esther van de Vosse et al. LANCET INFECTIOUS DISEASES
- Functional analysis of naturally occurring amino acid substitutions in human IFN-γR1
- (2009) Diederik van de Wetering et al. MOLECULAR IMMUNOLOGY
- IL-23 modulates CD56+/CD3- NK Cell and CD56+/CD3+ NK-like T Cell function differentially from IL-12
- (2008) D. van de Wetering et al. INTERNATIONAL IMMUNOLOGY
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