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A 5-Year-Old Female with Neutropenia and Compound Heterozygous Variants in CXCR2

ISSN: 30658993 · Editor / fuente: Rockefeller University Press
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30658993 ISSN
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Combined B Cell Aplasia and Hypereosinophilia as a Complication of Lamotrigine Therapy

Katherine Michaelis et al. · 2026 · Rockefeller University Press
Title ID 299492 DOI 10.70962/CIS2026abstract.130
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Combined Immunodeficiency Manifests from S-Adenosylhomocysteine (SAH) Hydrolase Deficiency

Ian Cohn et al. · 2026 · Rockefeller University Press
Title ID 299490 DOI 10.70962/CIS2026abstract.131
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Community Immunologist-Led Multidisciplinary Approach to Secondary Hypogammaglobulinemia in Solid Organ Transplant Recipient with Recurrent Infections

Omer Bangash et al. · 2026 · Rockefeller University Press
Title ID 299491 DOI 10.70962/CIS2026abstract.132
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COPA Syndrome and Its Many Flavors

Faiyza Osman et al. · 2026 · Rockefeller University Press
Title ID 299489 DOI 10.70962/CIS2026abstract.133
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Coronary Artery Dilation and Tortuosity in STAT3DN Hyper IgE Syndrome

Amanda Urban et al. · 2026 · Rockefeller University Press
Title ID 299342 DOI 10.70962/CIS2026abstract.43
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Correlation of Activated-Inflammatory T Cell Subtypes in Patients Tested for Lymphocyte Immunodeficiency

Charles Lutz · 2026 · Rockefeller University Press
Title ID 299340 DOI 10.70962/CIS2026abstract.44
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CTLA-4 Variant Interpretation and Clinical Impact

Julia Padilha Silva et al. · 2026 · Rockefeller University Press
Title ID 299487 DOI 10.70962/CIS2026abstract.135
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CXCL13 as a Biomarker of Complex Common Variable Immunodeficiency

Ioasaf Karafotias et al. · 2026 · Rockefeller University Press
Title ID 299407 DOI 10.70962/CIS2026abstract.205
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Cytokine Profile in Patients with Chronic Granulomatous Disease (CGD)

Morna Dorsey et al. · 2026 · Rockefeller University Press
Title ID 299339 DOI 10.70962/CIS2026abstract.45
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Decoding RELA-Related Disease: A Spectrum of Immune Dysregulation in a Large Global Cohort

Gayathri Dileepan et al. · 2026 · Rockefeller University Press
Title ID 299312 DOI 10.70962/CIS2026abstract.7
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Defining Genotype to Phenotype Causality in Patients with Diverse FOXN1 Variants

Katelyn Boetel et al. · 2026 · Rockefeller University Press
Title ID 299338 DOI 10.70962/CIS2026abstract.46
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Delayed Diagnosis of DOCK8 Deficiency Unmasked by Tuberculoid Leprosy and JC Virus Infection

Shuayb Elkhalifa et al. · 2026 · Rockefeller University Press
Title ID 299486 DOI 10.70962/CIS2026abstract.136
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Deletion of IRF2BP2 Presenting as Late-Onset Common Variable Immunodeficiency with Bronchiectasis

Samantha Shafer et al. · 2026 · Rockefeller University Press
Title ID 299485 DOI 10.70962/CIS2026abstract.137
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Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Giuseppe Sangiorgio et al. · 2026 · Rockefeller University Press
Title ID 299300 DOI 10.70962/CIS2026abstract.8
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Determinants of Fate Progression Beyond the Human Tfh Cell Stage

Suzanna Rachimi et al. · 2026 · Rockefeller University Press
Title ID 299289 DOI 10.70962/CIS2026abstract.9
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Determining the Risk of Developing Severe Sepsis Using Genetic Profiling of Innate Immunity Genes

E.A. Polyakova et al. · 2026 · Rockefeller University Press
Title ID 299406 DOI 10.70962/CIS2026abstract.206
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Development of a Disease Activity Score to Assess Treatment Success in Patients with NFKB1 Mutations

Katharina Thoma et al. · 2026 · Rockefeller University Press
Title ID 299337 DOI 10.70962/CIS2026abstract.47
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Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

Chen Wang et al. · 2026 · Rockefeller University Press
Title ID 299405 DOI 10.70962/CIS2026abstract.207
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Development of a Yucatan Mini-Pig Model for Deficiency of Adenosine Deaminase 2 (DADA2)

Teresa Tarrant et al. · 2026 · Rockefeller University Press
Title ID 299336 DOI 10.70962/CIS2026abstract.48
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Diagnostic Utility of Genetic Testing in a Complex Multisystem Presentation: A Case of CTLA4 Haploinsufficiency

Priyanga Selvakumar et al. · 2026 · Rockefeller University Press
Title ID 299335 DOI 10.70962/CIS2026abstract.49
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Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity

Bobbi McGivern et al. · 2026 · Rockefeller University Press
Title ID 299333 DOI 10.70962/CIS2026abstract.50
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Disease-Causing STAT3 Variants Can Be Discriminated by a Functional Flow Cytometry Test

Ana Esteve-Sole et al. · 2026 · Rockefeller University Press
Title ID 299403 DOI 10.70962/CIS2026abstract.208
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Disseminated Fungal Infection, Hypercalcemia, and Portal Hypertension After Vaginal Seeding in a Neonate with Underlying Chronic Granulomatous Disease

Kent Mun Loh et al. · 2026 · Rockefeller University Press
Title ID 299527 DOI 10.70962/CIS2026abstract.10
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Disseminated Fusariosis, Leukemia Cutis, and Acute Sinus Disease in Prolonged Neutropenia from Acute Myeloid Leukemia

Katarzyna Karpinska-Leydier et al. · 2026 · Rockefeller University Press
Title ID 299484 DOI 10.70962/CIS2026abstract.138
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Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27

Rui Yang et al. · 2026 · Rockefeller University Press
Title ID 299332 DOI 10.70962/CIS2026abstract.51
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Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Juyoung Kim et al. · 2026 · Rockefeller University Press
Title ID 299331 DOI 10.70962/CIS2026abstract.52
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Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families

Paola Suhet et al. · 2026 · Rockefeller University Press
Title ID 299330 DOI 10.70962/CIS2026abstract.53
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Effectiveness of Immunoglobulin-Replacement Therapy in Patients with Hematological Malignancies and Secondary Immunodeficiency: A Focus on COVID-19 Infections

Antoine Azar et al. · 2026 · Rockefeller University Press
Title ID 299483 DOI 10.70962/CIS2026abstract.139
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Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids

Jessica Durkee-Shock et al. · 2026 · Rockefeller University Press
Title ID 299402 DOI 10.70962/CIS2026abstract.209
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Enhanced Diagnosis of Primary Immunodeficiencies, Including Bronchiectasis Cases, Using Transcriptomic Artificial Intelligence

Benjamin G. Cocks et al. · 2026 · Rockefeller University Press
Title ID 299400 DOI 10.70962/CIS2026abstract.210
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Enrichment of Variants of Known and Unknown Significance in Specific Inborn Error of Immunity Categories in Children with Autoimmune Cytopenia

Stennio Da Silva Faria et al. · 2026 · Rockefeller University Press
Title ID 299399 DOI 10.70962/CIS2026abstract.211
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Eosinophilic Lung Disease as the Initial Manifestation of X-Linked Hyper-IgM Syndrome in an Infant

Adriana Lopez et al. · 2026 · Rockefeller University Press
Title ID 299481 DOI 10.70962/CIS2026abstract.140
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Establishing Newborn Screening for SCID: The BC and Yukon Experience

Abigail Netanya Ngan et al. · 2026 · Rockefeller University Press
Title ID 299480 DOI 10.70962/CIS2026abstract.141
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Expanded Clinical Spectrum Associated with Heterozygous Variants of RNU4ATAC

Lila Yang et al. · 2026 · Rockefeller University Press
Title ID 299479 DOI 10.70962/CIS2026abstract.142
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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

Nouf Faisal Alsaati et al. · 2026 · Rockefeller University Press
Title ID 299329 DOI 10.70962/CIS2026abstract.54
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Expanded Phenotype, Outcome, and New Insights from the Largest Single-Country Cohort of ARPC1B Deficiency

Dharmagat Bhattarai et al. · 2026 · Rockefeller University Press
Title ID 299328 DOI 10.70962/CIS2026abstract.55
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Exploration of Clusters of Rare Disease: ARPC1B Deficiency with Founder Effect in Nepal

Dharmagat Bhattarai et al. · 2026 · Rockefeller University Press
Title ID 299327 DOI 10.70962/CIS2026abstract.56
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Familial Reticular Dysgenesis Due to Adenylate Cyclase 2 (AK2) Deficiency: Insights from a Three-Sibling Case Series

Ashna Jain et al. · 2026 · Rockefeller University Press
Title ID 299478 DOI 10.70962/CIS2026abstract.143
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Fatal H5N1 Avian Influenza Pneumonia Associated with Autoantibodies Neutralizing Type I Interferons

Taylor Conrad et al. · 2026 · Rockefeller University Press
Title ID 299326 DOI 10.70962/CIS2026abstract.57
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Fatal Pneumococcal Meningitis in a 22-Month-Old with Classical Complement C2 Deficiency

Mariam Eldaba et al. · 2026 · Rockefeller University Press
Title ID 299477 DOI 10.70962/CIS2026abstract.144
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Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndromeThymic alterations in 22q11.2 deletion syndrome

Viktoria Hennings et al. · 2026 · Rockefeller University Press
Title ID 315850 DOI 10.70962/jhi.20260011
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Foundational Analysis of the Impact of Mechanical Stress on Molecular Size Distribution in Immune Globulin Intravenous, Human-stwk, 10%

Stacey Ness et al. · 2026 · Rockefeller University Press
Title ID 299324 DOI 10.70962/CIS2026abstract.58
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Functional Characterization of a Biallelic ITK D266H Variant Implicated in Infantile Fulminant and Giant Cell Hepatitis

Areli Flores Camargo et al. · 2026 · Rockefeller University Press
Title ID 299476 DOI 10.70962/CIS2026abstract.145
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Functional Defects in the NFκB pathway in Common Variable Immunodeficiency

Terrence T.J. Hunter et al. · 2026 · Rockefeller University Press
Title ID 299325 DOI 10.70962/CIS2026abstract.59
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Functional Pneumococcal Assessment Using the Multiplexed Opsonophagocytosis Assay Improves Alignment with Clinical Diagnosis of Specific Antibody Deficiency

Shifaa Alkotob et al. · 2026 · Rockefeller University Press
Title ID 299322 DOI 10.70962/CIS2026abstract.60
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Functional Validation of an ADA Variant in Secondary HLH Reveals Delayed Onset ADA-SCID

Jenny Patel et al. · 2026 · Rockefeller University Press
Title ID 299321 DOI 10.70962/CIS2026abstract.61
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GATA2 Deficiency Presenting with Severe Immune Dysregulation

Aria Bruton Joe et al. · 2026 · Rockefeller University Press
Title ID 299475 DOI 10.70962/CIS2026abstract.146
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Genetic Prediction of Sepsis Severity Based on the Detection of MCP-1 Gene Polymorphism in Patients with Acquired Immunological Disorders

N. Matselski et al. · 2026 · Rockefeller University Press
Title ID 299474 DOI 10.70962/CIS2026abstract.147
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Genetic Spectrum of ATM Founder Mutations and Malignancy in Ataxia-Telangiectasia

Gloriana Villalobos-Alvarado et al. · 2026 · Rockefeller University Press
Title ID 299398 DOI 10.70962/CIS2026abstract.212
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Genetics of B Cell Maturation in Common Variable Immunodeficiency in Brazil: A Joint Analysis of the CVID-Brazil Cohort and the CNE3I Program

Beatriz Costa Todt et al. · 2026 · Rockefeller University Press
Title ID 299320 DOI 10.70962/CIS2026abstract.62
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