标题
Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
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
2020-02-18
DOI
10.1007/s00439-020-02131-9
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。- Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
- (2020) Stuart G. Tangye et al. JOURNAL OF CLINICAL IMMUNOLOGY
- PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components
- (2019) Zhipeng Ma et al. NATURE
- 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
- Impaired CpG Demethylation in Common Variable Immunodeficiency Associates With B Cell Phenotype and Proliferation Rate
- (2019) Lucía del Pino-Molina et al. Frontiers in Immunology
- Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype
- (2019) Kristýna Fiedorová et al. Frontiers in Immunology
- A New Patient with Inherited TYK2 Deficiency
- (2019) Shokouh Azam Sarrafzadeh et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
- (2019) Sabine Jägle et al. CLINICAL IMMUNOLOGY
- Regulatory genome variants in human susceptibility to infection
- (2019) Amalio Telenti et al. HUMAN GENETICS
- Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics
- (2018) W. Rae et al. CLINICAL GENETICS
- Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
- (2018) Charlotte Schwab et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders
- (2018) Tomonori Kadowaki et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Current understanding of the human microbiome
- (2018) Jack A Gilbert et al. NATURE MEDICINE
- Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
- (2018) Guillem de Valles-Ibáñez et al. Frontiers in Immunology
- Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
- (2018) Gabrielle Bradshaw et al. Frontiers in Immunology
- Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data
- (2018) Michael H. Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mendelian susceptibility to mycobacterial disease: 2014-2018 update
- (2018) Jérémie Rosain et al. IMMUNOLOGY AND CELL BIOLOGY
- Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases
- (2018) Anna Mensa-Vilaró et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
- (2018) Alexandre Bolze et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics
- (2018) Justin Taft et al. JOURNAL OF IMMUNOLOGY
- JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome
- (2017) Kate L. Del Bel et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
- (2017) Asbjørg Stray-Pedersen et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A novel kindred with inherited STAT2 deficiency and severe viral illness
- (2017) Leen Moens et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome
- (2017) Fabio Candotti JOURNAL OF CLINICAL IMMUNOLOGY
- A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
- (2017) Rodrigo Hoyos-Bachiloglu et al. JOURNAL OF CLINICAL INVESTIGATION
- Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders
- (2017) V Savova et al. MOLECULAR PSYCHIATRY
- Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168
- (2017) Ivan K. Chinn et al. Frontiers in Immunology
- Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
- (2017) Dorota M. Rowczenio et al. Frontiers in Immunology
- Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
- (2016) Chi A. Ma et al. BLOOD
- Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation
- (2016) Ana Martínez-Feito et al. IMMUNOBIOLOGY
- Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
- (2016) Hamoud Al-Mousa et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
- (2016) Laura Gámez-Díaz et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals
- (2016) Kerstin Felgentreff et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
- (2016) Michel J. Massaad et al. JOURNAL OF CLINICAL INVESTIGATION
- Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
- (2016) Delfien J A Bogaert et al. JOURNAL OF MEDICAL GENETICS
- Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation
- (2016) S F Jørgensen et al. Mucosal Immunology
- Analysis of allelic expression patterns in clonal somatic cells by single-cell RNA–seq
- (2016) Björn Reinius et al. NATURE GENETICS
- Zika Virus Infection with Prolonged Maternal Viremia and Fetal Brain Abnormalities
- (2016) Rita W. Driggers et al. NEW ENGLAND JOURNAL OF MEDICINE
- Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
- (2016) Andrew T Timberlake et al. eLife
- Biased Allelic Expression in Human Primary Fibroblast Single Cells
- (2015) Christelle Borel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Chromothriptic Cure of WHIM Syndrome
- (2015) David H. McDermott et al. CELL
- Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation
- (2015) Shoshana Revel-Vilk et al. CLINICAL IMMUNOLOGY
- Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis
- (2015) N Mørk et al. GENES AND IMMUNITY
- Molecular diagnostic experience of whole-exome sequencing in adult patients
- (2015) Jennifer E. Posey et al. GENETICS IN MEDICINE
- Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
- (2015) Bergithe E. Oftedal et al. IMMUNITY
- Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
- (2015) Heleen D. de Koning et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases
- (2015) Mitsutaka Shiota et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
- (2015) Alexandra Y. Kreins et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Functional IRF3 deficiency in a patient with herpes simplex encephalitis
- (2015) Line Lykke Andersen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation
- (2015) Björn Reinius et al. NATURE REVIEWS GENETICS
- Mutation Burden of Rare Variants in Schizophrenia Candidate Genes
- (2015) Simon L. Girard et al. PLoS One
- Human IFNAR2 deficiency: Lessons for antiviral immunity
- (2015) Christopher J. A. Duncan et al. Science Translational Medicine
- Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition
- (2015) Virginia C. Rodríguez-Cortez et al. Nature Communications
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
- (2014) Janet Cady et al. ANNALS OF NEUROLOGY
- Developmental Dynamics and Disease Potential of Random Monoallelic Gene Expression
- (2014) Anne-Valerie Gendrel et al. DEVELOPMENTAL CELL
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype
- (2014) Huie Jing et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3
- (2014) Sol A. Ban et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
- (2014) Xianqin Zhang et al. NATURE
- Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
- (2014) Desirée Schubert et al. NATURE MEDICINE
- TLR3 deficiency in herpes simplex encephalitis: High allelic heterogeneity and recurrence risk
- (2014) H. K. Lim et al. NEUROLOGY
- Monoallelic expression of the humanFOXP2speech gene
- (2014) Abidemi A. Adegbola et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Single-Cell RNA-Seq Reveals Dynamic, Random Monoallelic Gene Expression in Mammalian Cells
- (2014) Q. Deng et al. SCIENCE
- Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
- (2014) H. S. Kuehn et al. SCIENCE
- 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
- Chromatin signature of widespread monoallelic expression
- (2014) Anwesha Nag et al. eLife
- Burden of copy number variation in common variable immunodeficiency
- (2013) M. Keller et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
- (2013) Amy P. Hsu et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells
- (2013) Bertrand Boisson et al. JOURNAL OF CLINICAL INVESTIGATION
- Seroprevalence of Herpes Simplex Virus Types 1 and 2--United States, 1999-2010
- (2013) H. Bradley et al. JOURNAL OF INFECTIOUS DISEASES
- Inherited IL-12p40 Deficiency
- (2013) Carolina Prando et al. MEDICINE
- The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population
- (2013) Kiyoshi Migita et al. PLoS One
- STAT2 deficiency and susceptibility to viral illness in humans
- (2013) S. Hambleton et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
- (2012) Gabriela Lopez-Herrera et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
- (2012) Katja Christodoulou et al. GUT
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
- (2012) Alireza Baradaran-Heravi et al. HUMAN MOLECULAR GENETICS
- Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
- (2012) Xiao-Fei Kong et al. HUMAN MOLECULAR GENETICS
- Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
- (2012) Miyuki Tsumura et al. HUMAN MUTATION
- A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease
- (2012) Elizabeth P. Sampaio et al. JOURNAL OF CLINICAL IMMUNOLOGY
- HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
- (2012) Melina Herman et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Stochastic Choice of Allelic Expression in Human Neural Stem Cells
- (2012) Aaron R. Jeffries et al. STEM CELLS
- Severe impairment of IFN- and IFN- responses in cells of a patient with a novel STAT1 splicing mutation
- (2011) D. Vairo et al. BLOOD
- Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG
- (2011) S. Rigaud et al. BLOOD
- A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation
- (2011) B. Neven et al. BLOOD
- A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25
- (2011) M R Green et al. GENES AND IMMUNITY
- Genome-wide association identifies diverse causes of common variable immunodeficiency
- (2011) Jordan S. Orange et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency
- (2011) Vanessa Sancho-Shimizu et al. JOURNAL OF CLINICAL INVESTIGATION
- Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity
- (2011) Yiqi Guo et al. JOURNAL OF EXPERIMENTAL MEDICINE
- FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome
- (2011) H. S. Kuehn et al. JOURNAL OF IMMUNOLOGY
- Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome
- (2010) K. C. Dowdell et al. BLOOD
- Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation
- (2010) M. Takagi et al. BLOOD
- A novel form of human STAT1 deficiency impairing early but not late responses to interferons
- (2010) X.-F. Kong et al. BLOOD
- Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis
- (2010) J. E. Niemela et al. BLOOD
- Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria
- (2010) Ines Ackerl Kristensen et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Selective IgA Deficiency
- (2010) Leman Yel JOURNAL OF CLINICAL IMMUNOLOGY
- Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation
- (2010) Aude Magerus-Chatinet et al. JOURNAL OF CLINICAL INVESTIGATION
- Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood
- (2010) Laurent Abel et al. JOURNAL OF PEDIATRICS
- Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency
- (2010) Capucine Picard et al. MEDICINE
- Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome
- (2009) K Boztug et al. CLINICAL GENETICS
- Secondary immunodeficiencies, including HIV infection
- (2009) Javier Chinen et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A partial form of recessive STAT1 deficiency in humans
- (2009) Ariane Chapgier et al. JOURNAL OF CLINICAL INVESTIGATION
- Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype
- (2009) Benjamin Dekel et al. PEDIATRIC RESEARCH
- Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency
- (2008) C. Speckmann et al. BLOOD
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