标题
Atopic manifestations of inborn errors of immunity
作者
关键词
-
出版物
Current Opinion in Allergy and Clinical Immunology
Volume 23, Issue 6, Pages 478-490
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2023-09-27
DOI
10.1097/aci.0000000000000943
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
- (2023) Safa Baris et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
- (2023) Ekaterina Minskaia et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human germline heterozygous gain-of-functionSTAT6variants cause severe allergic disease
- (2023) Mehul Sharma et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Learning while treating: Gain-of-function STAT6 variants in severe allergic disease
- (2023) Tukisa D. Smith et al. Cell Reports Medicine
- Novel Genetic Discoveries in Primary Immunodeficiency Disorders
- (2022) Margaret T. Redmond et al. CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
- Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review
- (2022) Lucinda L. Kohn et al. PEDIATRIC DERMATOLOGY
- Treatment of STAT3-deficient hyper–immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation
- (2022) Alyssa E. James et al. Journal of Allergy and Clinical Immunology-In Practice
- Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins
- (2022) Nora Alrumayyan et al. Allergy Asthma and Clinical Immunology
- Inborn Errors of the Immune System Associated With Atopy
- (2022) Ryan W. Nelson et al. Frontiers in Immunology
- Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
- (2022) Akihiro Hoshino et al. Science Immunology
- Clearance of atypical cutaneous manifestations of hyper‐IgE syndrome with dupilumab
- (2022) Aman Nihal et al. PEDIATRIC DERMATOLOGY
- A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
- (2022) Youhong Fang et al. Frontiers in Genetics
- A germline STAT6 gain-of-function variant is associated with early-onset allergies
- (2022) Narissara Suratannon et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
- (2022) Aziz Bousfiha et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency
- (2022) Hye Sun Kuehn et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- STAT6 gain-of-function variant exacerbates multiple allergic symptoms
- (2022) Ichiro Takeuchi et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome
- (2021) Stephanie C. Harrison et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Inborn errors of immunity with atopic phenotypes: A practical guide for allergists
- (2021) Riccardo Castagnoli et al. World Allergy Organization Journal
- Efficacy of Dupilumab for controlling severe atopic dermatitis with dominant‐negative CARD11 variant
- (2021) E. Charvet et al. CLINICAL AND EXPERIMENTAL DERMATOLOGY
- Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
- (2021) Lin Wang et al. NATURE GENETICS
- Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases
- (2021) T. Blaine Crowley et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The Epidemiology and Clinical Presentations of Atopic Diseases in Selective IgA Deficiency
- (2021) Izabela Morawska et al. Journal of Clinical Medicine
- A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
- (2021) Henry Y. Lu et al. Frontiers in Immunology
- 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
- Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
- (2020) Yin-Huai Chen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- PAX1 is essential for development and function of the human thymus
- (2020) Yasuhiro Yamazaki et al. Science Immunology
- Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
- (2020) Vivien Béziat et al. JOURNAL OF EXPERIMENTAL MEDICINE
- SnapShot: Jak-STAT Signaling II
- (2020) Alejandro V. Villarino et al. CELL
- NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
- (2020) Carla Noemi Castro et al. JOURNAL OF EXPERIMENTAL MEDICINE
- HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
- (2020) Sarah A. Cook et al. SCIENCE
- A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
- (2020) Jennifer R. Yonkof et al. Frontiers in Immunology
- T Follicular Helper Cell Biology: A Decade of Discovery and Diseases
- (2019) Shane Crotty IMMUNITY
- CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease
- (2019) Thomas Magg et al. INFLAMMATORY BOWEL DISEASES
- A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency
- (2019) Faranaz Atschekzei et al. JOURNAL OF CLINICAL IMMUNOLOGY
- A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
- (2019) Alina Kurolap et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations
- (2019) Maria E. Maccari et al. CLINICAL IMMUNOLOGY
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- (2019) Marita Bosticardo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mechanisms of Dupilumab
- (2019) Hani Harb et al. CLINICAL AND EXPERIMENTAL ALLERGY
- Contraindications to immunotherapy: a global approach
- (2019) C. Pitsios et al. Clinical and Translational Allergy
- Defining a new immune deficiency syndrome: MAN2B2-CDG
- (2019) Jan Verheijen et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Off-label use of dupilumab for pediatric patients with atopic dermatitis: A multicenter retrospective review
- (2019) Sean Igelman et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Primary atopic disorders
- (2018) Jonathan J. Lyons et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
- (2018) Anas M. Alazami et al. Frontiers in Immunology
- What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy
- (2018) Mark J. Ponsford et al. Current Opinion in Allergy and Clinical Immunology
- COSMIC: the Catalogue Of Somatic Mutations In Cancer
- (2018) John G Tate et al. NUCLEIC ACIDS RESEARCH
- First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID
- (2017) Ottavia M. Delmonte et al. JOURNAL OF CLINICAL IMMUNOLOGY
- EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
- (2017) Stefano Volpi et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
- (2017) Tobias Schwerd et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A human immunodeficiency syndrome caused by mutations in CARMIL2
- (2017) T. Schober et al. Nature Communications
- Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8–deficient patients
- (2016) Corinne S. Happel et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency
- (2016) Waleed Al-Herz et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- X-linked primary immunodeficiency associated with hemizygous mutations in the moesin ( MSN ) gene
- (2016) Chantal Lagresle-Peyrou et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Dual T cell– and B cell–intrinsic deficiency in humans with biallelicRLTPRmutations
- (2016) Yi Wang et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A potential founder variant inCARMIL2/RLTPRin three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
- (2016) Hanne S. Sorte et al. Molecular Genetics & Genomic Medicine
- Atopic Diathesis in Hypohidrotic/anhidrotic Ectodermal Dysplasia
- (2015) H Koguchi-Yoshioka et al. ACTA DERMATO-VENEREOLOGICA
- Clinical contraindications to allergen immunotherapy: an EAACI position paper
- (2015) C. Pitsios et al. ALLERGY
- Clinical phenotype classification for selective immunoglobulin A deficiency
- (2015) Reza Yazdani et al. Expert Review of Clinical Immunology
- Activating STAT6 mutations in follicular lymphoma
- (2014) M. Yildiz et al. BLOOD
- Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
- (2014) Yu Zhang et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
- (2014) Eva Froňková et al. PLoS One
- Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
- (2013) Daniel Kotlarz et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes
- (2012) Barry J. Mark et al. ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
- Diagnosis and management of hymenoptera venom allergy: British Society for Allergy and Clinical Immunology (BSACI) guidelines
- (2011) M. T. Krishna et al. CLINICAL AND EXPERIMENTAL ALLERGY
- Transcriptional regulation by STAT6
- (2011) Shreevrat Goenka et al. IMMUNOLOGIC RESEARCH
- Recurrent mutations of the STAT6 DNA binding domain in primary mediastinal B-cell lymphoma
- (2009) O. Ritz et al. BLOOD
- Cytokine modulation of atopic dermatitis filaggrin skin expression
- (2009) Michael D. Howell et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Filaggrin in the frontline: role in skin barrier function and disease
- (2009) A. Sandilands et al. JOURNAL OF CELL SCIENCE
- IgA Deficiency: Correlation Between Clinical and Immunological Phenotypes
- (2008) Asghar Aghamohammadi et al. JOURNAL OF CLINICAL IMMUNOLOGY
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