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Title
Genetic Mosaicism as a Cause of Inborn Errors of Immunity
Authors
Keywords
-
Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 41, Issue 4, Pages 718-728
Publisher
Springer Science and Business Media LLC
Online
2021-04-17
DOI
10.1007/s10875-021-01037-z
References
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- (2021) Erica G. Schmitt et al. Annual Review of Immunology
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- (2020) James E. D. Thaventhiran et al. NATURE
- Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
- (2020) Conor N. Gruber et al. IMMUNITY
- Human inborn errors of immunity: An expanding universe
- (2020) Luigi D. Notarangelo et al. Science Immunology
- Primary immune regulatory disorders: a growing universe of immune dysregulation
- (2020) Alice Y. Chan et al. Current Opinion in Allergy and Clinical Immunology
- Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain-of-function
- (2020) Jahnavi Aluri et al. BLOOD
- Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
- (2020) David B. Beck et al. NEW ENGLAND JOURNAL OF MEDICINE
- Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
- (2020) Bethany A. Pillay et al. JOURNAL OF CLINICAL INVESTIGATION
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- (2019) Camille Louvrier et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Somatic Variants: New Kids on the Block in Human Immunogenetics
- (2019) L. Van Horebeek et al. TRENDS IN GENETICS
- X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability
- (2018) Beatriz E. Marciano et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases
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- Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization
- (2017) Denise Lasigliè et al. JOURNAL OF RHEUMATOLOGY
- Lessons learned from additional research analyses of unsolved clinical exome cases
- (2017) Mohammad K. Eldomery et al. Genome Medicine
- Identification of a High-Frequency SomaticNLRC4Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection
- (2017) Yuri Kawasaki et al. Arthritis & Rheumatology
- Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
- (2017) Dorota M. Rowczenio et al. Frontiers in Immunology
- Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
- (2016) Sarah L. N. Clarke et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
- (2016) Chi A. Ma et al. BLOOD
- Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome
- (2016) A. Janda et al. BLOOD
- Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-NucleotideTNFRSF1ADeletion
- (2016) Dorota M. Rowczenio et al. Arthritis & Rheumatology
- Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism
- (2016) Anna Mensa-Vilaro et al. Arthritis & Rheumatology
- Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to GonosomalNOD2Mosaicism
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- Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted SomaticNLRP3Mutation
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- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Brief Report: Whole-Exome Sequencing Revealing SomaticNLRP3Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
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- Expansion of somatically reverted memory CD8+T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus
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- High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study
- (2011) Naoko Tanaka et al. ARTHRITIS AND RHEUMATISM
- A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde
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- Revertant somatic mosaicism in the Wiskott–Aldrich syndrome
- (2009) Brian R. Davis et al. IMMUNOLOGIC RESEARCH
- Somatic mosaicism in primary immune deficiencies
- (2008) Taizo Wada et al. Current Opinion in Allergy and Clinical Immunology
- The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
- (2008) Saleh Al-Muhsen et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
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