标题
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
作者
关键词
-
出版物
Frontiers in Immunology
Volume 7, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2016-06-13
DOI
10.3389/fimmu.2016.00220
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。- Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4
- (2016) Sangmoon Lee et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The mutation significance cutoff: gene-level thresholds for variant predictions
- (2016) Yuval Itan et al. NATURE METHODS
- Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
- (2016) Hye Sun Kuehn et al. NEW ENGLAND JOURNAL OF MEDICINE
- Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
- (2015) Manfred Fliegauf et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency
- (2015) M. Elgizouli et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
- (2015) Pauline A. van Schouwenburg et al. CLINICAL IMMUNOLOGY
- Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
- (2015) Louis-Marie Charbonnier et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
- (2015) Capucine Picard et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
- (2015) B. Lo et al. SCIENCE
- Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
- (2014) J. D. Milner et al. BLOOD
- Discovery of single-gene inborn errors of immunity by next generation sequencing
- (2014) Mary Ellen Conley et al. CURRENT OPINION IN IMMUNOLOGY
- Ikaros fingers on lymphocyte differentiation
- (2014) Toshimi Yoshida et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
- (2014) Sarah E Flanagan et al. NATURE GENETICS
- Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
- (2014) Desirée Schubert et al. NATURE MEDICINE
- Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
- (2013) Carrie L Lucas et al. NATURE IMMUNOLOGY
- Phosphoinositide 3-Kinase Gene Mutation Predisposes to Respiratory Infection and Airway Damage
- (2013) I. Angulo et al. SCIENCE
- Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
- (2012) J. Pagel et al. BLOOD
- Novel mutation in STXBP2 prevents IL-2–induced natural killer cell cytotoxicity
- (2012) Rushani W. Saltzman et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
- (2012) Abdullah Alangari et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Common variable immunodeficiency - an update
- (2012) Ulrich Salzer et al. ARTHRITIS RESEARCH & THERAPY
- Morbidity and mortality in common variable immune deficiency over 4 decades
- (2011) E. S. Resnick et al. BLOOD
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Combined Immunodeficiency Associated withDOCK8Mutations
- (2009) Qian Zhang et al. NEW ENGLAND JOURNAL OF MEDICINE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More