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 |