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                             112 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Abnormal Immune Profile in Individuals with Kabuki Syndrome Comel, Margot

45 1 artikel
2 β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies Bar-On, Zahala

45 1 artikel
3 A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD Lu, Henry Y.

45 1 artikel
4 A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia Caka, Canan

45 1 artikel
5 Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis Aytekin, Elif Soyak

45 1 artikel
6 Anifrolumab in Monogenic Lupus caused by TREX1 Mutation Moran-Alvarez, Patricia

45 1 artikel
7 A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity Shibata, Hirofumi

45 1 artikel
8 A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms Takada, Sanami

45 1 artikel
9 A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13 Tabassum, Saira

45 1 artikel
10 A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs Baran, Alperen

45 1 artikel
11 A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases Tello, Héctor Gómez

45 1 artikel
12 A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID Dong, Lulu

45 1 artikel
13 ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects Salami, Fereshte

45 1 artikel
14 Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation Blokhuis, C.

45 1 artikel
15 Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia Saettini, Francesco

45 1 artikel
16 BK Virus-Specific T Cell Response Associated with HLA Genotypes, RhD Status, and CMV or EBV Serostatus in Healthy Donors for Optimized Cell Therapy Mora-Buch, Rut

45 1 artikel
17 Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis Fekrvand, Saba

45 1 artikel
18 Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity Xing, Shubin

45 1 artikel
19 Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study De Renzis, Chiara

45 1 artikel
20 Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort Süleyman, Merve

45 1 artikel
21 Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review Sharma, Saniya

45 1 artikel
22 Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV Zhang, Weiying

45 1 artikel
23 Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life Bougarn, Salim

45 1 artikel
24 Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation Moran‑Alvarez, Patricia

45 1 artikel
25 Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries Huynh, Aimee

45 1 artikel
26 Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans Azizoglu, Zehra Busra

45 1 artikel
27 Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders Palacios-Ortega, María

45 1 artikel
28 Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye Erman, Baran

45 1 artikel
29 Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12 Walker, Kieran

45 1 artikel
30 Correction to: Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID Goebel, Gabriela Assunção

45 1 artikel
31 Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI) Fox, Thomas A.

45 1 artikel
32 Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity Nikzad, Sarina

45 1 artikel
33 Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literature Review Zhao, Liyan

45 1 artikel
34 De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review Chen, Xinying

45 1 artikel
35 Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project Rivière, Jacques G.

45 1 artikel
36 Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions Briones, Alejandro C.

45 1 artikel
37 Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders Palacios-Ortega, María

45 1 artikel
38 Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm Thangaraj, Abarna

45 1 artikel
39 Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey Bekis Bozkurt, Hayrunnisa

45 1 artikel
40 Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control Vollmuth, Yannik

45 1 artikel
41 Dupilumab-induced Eosinophilic Granulomatosis with Polyangiitis Complicated by Peripheral Neuropathic Pain: a Case Report and Literature Review Wu, Jiajun

45 1 artikel
42 Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening Cicek, Alphan

45 1 artikel
43 Endophilin A2 Deficiency Impairs Antibody Production in Humans Mehawej, Cybel

45 1 artikel
44 Evaluation of a Multiplex Electrochemiluminescence Assay for Detection of Anti-Pneumococcal Antibodies in the Diagnosis of Selective Polysaccharide Antibody Deficiency Perrard, Nicolas

45 1 artikel
45 Expanding the Spectrum of Immune Abnormalities in VICI Syndrome Frost, Erin L.

45 1 artikel
46 First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation Napoleao, Sarah Maria da Silva

45 1 artikel
47 From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity Antolí, Arnau

45 1 artikel
48 Genetics in a Danish Common Variable Immunodeficiency Cohort Drabe, Camilla Heldbjerg

45 1 artikel
49 Granulomas in Common Variable Immunodeficiency Display Different Histopathological Features Compared to Other Granulomatous Diseases van Stigt, Astrid C.

45 1 artikel
50 Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency Maimaris, Jesmeen

45 1 artikel
51 Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom Dimbleby, Benjamin

45 1 artikel
52 Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency AlQahtani, Fai

45 1 artikel
53 Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party Buso, Helena

45 1 artikel
54 Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency Urban, Blanca

45 1 artikel
55 HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome Chbihi, Marwa

45 1 artikel
56 Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders Carol, Hallie A.

45 1 artikel
57 Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells Thouvenel, Christopher D.

45 1 artikel
58 Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children Drago, Enrico

45 1 artikel
59 Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis Celmeli, Fatih

45 1 artikel
60 Interstitial Lung Disease in a Girl with Prolidase Deficiency Xu, Chunna

45 1 artikel
61 Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond Beyls, Elien

45 1 artikel
62 Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome Duran, Tugce

45 1 artikel
63 Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency Sarrigeorgiou, Ioannis

45 1 artikel
64 Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights Tian, Zhirui

45 1 artikel
65 Machine Learning of Laboratory Data in Predicting 30-Day Mortality for Adult Hemophagocytic Lymphohistiocytosis Zhou, Jun

45 1 artikel
66 MDA5 gain-of-function associated with a Glu794del mutation Wong, Callie

45 1 artikel
67 Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency Zhen, Xin

45 1 artikel
68 Molecular Interactions Between NK Cells and Acute Leukemic Cells: KIR2DL5 Drastically Limits NK Cell Responses Ferron, Enora

45 1 artikel
69 Mosaicism in Two Patients with COPA Syndrome Tusseau, Maud

45 1 artikel
70 Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India Gaikwad, Pallavi

45 1 artikel
71 Nationwide Survey of Multisystem Inflammatory Syndrome in Children Associated with Coronavirus Disease 2019 in Japan Matsubara, Daisuke

45 1 artikel
72 NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients Signa, Sara

45 1 artikel
73 Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID Goebel, Gabriela Assunção

45 1 artikel
74 Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti Eigemann, Jessica

45 1 artikel
75 Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies Kretzschmar, Genia

45 1 artikel
76 Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS) Wu, Qi

45 1 artikel
77 Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging? Bhattarai, Dharmagat

45 1 artikel
78 Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin Peek, Christopher T.

45 1 artikel
79 2025: Onward and Upward! Bonagura, Vincent R.

45 1 artikel
80 Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series Hashem, Hasan

45 1 artikel
81 Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency Walsh, Rebecca B.

45 1 artikel
82 Outcomes of X-Linked Agammaglobulinaemia Patients Shillitoe, Ben

45 1 artikel
83 Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children Wu, Shengchao

45 1 artikel
84 Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome Nouwen, Anouk E. M.

45 1 artikel
85 Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI) Fox, Thomas A.

45 1 artikel
86 Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis Zárate-Pinzón, Laura

45 1 artikel
87 Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy Chauvin, Samuel D.

45 1 artikel
88 Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient Ochoa, Sebastian

45 1 artikel
89 Prolonged Postoperative Wound Healing Due to Anti-IL-6 Autoantibody as a Phenocopy of Inborn Errors of Immunity Adachi, Shunichi

45 1 artikel
90 Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation Lima de Souza, Suiane

45 1 artikel
91 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency Brakta, Charlyne

45 1 artikel
92 Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year Kawai, Toshinao

45 1 artikel
93 Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity Nikzad, Sarina

45 1 artikel
94 Reassessing Polysaccharide Responsiveness: Unveiling Limitations of Current Guidelines and Introducing the Polysaccharide Responsiveness Percentile Approach Fogsgaard, Stine Fischer

45 1 artikel
95 Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care Israni, Muskan

45 1 artikel
96 Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant Menon, Surabhi

45 1 artikel
97 Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era Barzaghi, Federica

45 1 artikel
98 Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency Mishra-Sopori, Varsha

45 1 artikel
99 Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations Maimaris, Jesmeen

45 1 artikel
100 Safety and Efficacy of Intravenous Immune Globulin 10% (BIVIGAM®) in Children with Primary Immune Deficiency Melamed, Isaac

45 1 artikel
101 Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review Adi, Ghaith

45 1 artikel
102 Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons Le Stang, Valentine

45 1 artikel
103 Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity Diab, Farah

45 1 artikel
104 Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan Tomomasa, Dan

45 1 artikel
105 Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning Shadur, Bella

45 1 artikel
106 Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency Toskov, Vasil

45 1 artikel
107 Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib Vatansever, Gokce

45 1 artikel
108 The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection Liu, Qian

45 1 artikel
109 The Latin American Society for Immunodeficiencies Registry Seminario, Gisela

45 1 artikel
110 Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia Zhang, Yishi

45 1 artikel
111 Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency Ak, Bilgesu

45 1 artikel
112 Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation? Baggio, Chiara

45 1 artikel
                             112 gevonden resultaten
 
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