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

ISSN: 3065-8993 · Editor / fuente: Rockefeller University Press
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Artículo 2026

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. · Rockefeller University Press · ISSN 3065-8993
Title ID 299320 DOI 10.70962/CIS2026abstract.62
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Artículo 2026

Genome-Wide Association Study Implicates Immunogenetic Variation in Chemokine Signaling Pathways in Pediatric Tuberculosis Susceptibility

Christine Anterasian et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299319 DOI 10.70962/CIS2026abstract.63
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Artículo 2026

Geranylgeraniol Modulates Inflammatory and Metabolic Pathways but Not IgD Biology in Mevalonate Kinase Deficiency

Anna Sediva et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299318 DOI 10.70962/CIS2026abstract.64
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Artículo 2026

Granulomatous-Lymphocytic Interstitial Lung Disease in Non-CVID Immune Dysregulation

Jeremy Garcia et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299473 DOI 10.70962/CIS2026abstract.148
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Artículo 2026

Haploinsufficiency for Human ABCF1 Underlies Gastrointestinal Autoimmunity

Xin Long et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299396 DOI 10.70962/CIS2026abstract.213
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Artículo 2026

Health-Related Quality of Life (HRQOL) in Pediatric and Adult Patients with X-Linked Hyper IgM

Hannah Frudden et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299317 DOI 10.70962/CIS2026abstract.65
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Artículo 2026

Health-Related Quality of Life Reveals Distinct Fatigue and Functional Burden in Inflammatory Common Variable Immunodeficiency

Andrew Wong-Pack et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299472 DOI 10.70962/CIS2026abstract.149
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Artículo 2026

Heart-Stopping Dilemma: Fever, Necrotic Skin Lesions, and Myocarditis in a Patient with XLA

Anika Jain et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299470 DOI 10.70962/CIS2026abstract.150
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Artículo 2026

HEM-1-Associated Inborn Error of Immunity: A Case Series

Sebastian Chamorro Ordonez et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299316 DOI 10.70962/CIS2026abstract.66
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Artículo 2026

Heterogeneous CD21low B Cell Subsets and Their Functional Impact in Common Variable Immunodeficiency

Jitka Smetanová et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299315 DOI 10.70962/CIS2026abstract.67
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Artículo 2026

Heterozygous Variants in DOCK2 Leading to Susceptibility to Viral Illnesses

Amer Al-Musa et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299314 DOI 10.70962/CIS2026abstract.68
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Artículo 2026

Hickam’s Dictum, a Case of Chronic Granulomatous Disease and CVID-Like Hypogammaglobulinemia

Jamie Fried et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299469 DOI 10.70962/CIS2026abstract.151
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Artículo 2026

Homozygous C2 Deficiency with Hyper IgE Discovered in Adulthood After Persistently Low CH50

Kasama Manothummetha et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299468 DOI 10.70962/CIS2026abstract.152
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Artículo 2026

How I Treat: Haploinsufficiency of A20How I Treat: HA20

Jonathan Li et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 315847 DOI 10.70962/jhi.20250138
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Artículo 2026

How I Treat: Immune dysregulation in Down syndromeHow I Treat: Immune dysregulation in Down syndrome

Melissa Gans et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 315806 DOI 10.70962/jhi.20250161
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Artículo 2026

Human FOXP3 Isoforms in Health and Disease

Merve Nida Gokbak et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299467 DOI 10.70962/CIS2026abstract.153
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Artículo 2026

Human Germline Biallelic Loss-of-Function OSMR Variants Cause Severe Allergic Disease

Simran Samra et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299518 DOI 10.70962/CIS2026abstract.11
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Artículo 2026

Human Herpesvirus 6 (HHV-6) Infection Impairs T Cell Development in Children with Congenital Athymia Who Have Received Allogeneic Processed Thymus Tissue–agdc (RETHYMIC)

Jack Ringel et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299505 DOI 10.70962/CIS2026abstract.12
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Artículo 2026

Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity

Iris Fagniez et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299313 DOI 10.70962/CIS2026abstract.69
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Artículo 2026

Hypogammaglobulinemia and Recurrent Tracheitis in a 4-Month-Old Male with RTEL1 Heterozygous Mutation

Alessia Zambrano et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299465 DOI 10.70962/CIS2026abstract.154
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Artículo 2026

Hypomorphic SCID Due to LIG4 Deficiency Not Detected on Newborn Screening

Layla Samandi et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299466 DOI 10.70962/CIS2026abstract.155
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Artículo 2026

Identification of a Novel Deleterious RIPK1 Variant

Latoya Jeanpierre, MD, MS et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299311 DOI 10.70962/CIS2026abstract.70
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Artículo 2026

Idiopathic Combined Immunodeficiency Associated with Primary Pulmonary Sporotrichosis

Marija Rowane et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299464 DOI 10.70962/CIS2026abstract.156
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Artículo 2026

IEI Subphenotype Recognition Using Unsupervised Machine Learning on a National IEI Cohort with Clinical Validation

Alexandra Martinson et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299493 DOI 10.70962/CIS2026abstract.13
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Artículo 2026

Immune Diagnoses and Infection Burden in Down Syndrome: A Nationwide Epic Cosmos Analysis (2015–2024)

Travis Satnarine et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299397 DOI 10.70962/CIS2026abstract.214
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Artículo 2026

Immune Features of Chromosome 22q11.2 Deletion Syndrome

Nikita Raje et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299463 DOI 10.70962/CIS2026abstract.157
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Artículo 2026

Immune Thrombocytopenic Purpura as a Herald of Underlying X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia (XMEN) Disease in a Pediatric Patient

Kevin Lewis et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299462 DOI 10.70962/CIS2026abstract.158
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Artículo 2026

Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders

Martina Burattin et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299395 DOI 10.70962/CIS2026abstract.215
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Artículo 2026

Immunological Aspects of CHARGE Syndrome on the Example of Four Clinical Case Reports

O. Zobikova et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299310 DOI 10.70962/CIS2026abstract.71
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Artículo 2026

Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients

Markus G. Seidel · Rockefeller University Press · ISSN 3065-8993
Title ID 299308 DOI 10.70962/CIS2026abstract.72
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Artículo 2026

In Silico Hypersensitivity Risk Assessment of Product-Specific Human Contaminant Proteins in Commercial IVIg Products

Ben Gabriel et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299461 DOI 10.70962/CIS2026abstract.159
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Artículo 2026

In Utero Exposure to Azathioprine as Cause of Severe Newborn Lymphopenia

Adam Bartholomeo et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299459 DOI 10.70962/CIS2026abstract.160
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Artículo 2026

Inborn Errors of Immunity Adolescents at School

Jacques G. Rivière et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299307 DOI 10.70962/CIS2026abstract.73
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Artículo 2026

Inborn Errors of T Cell Topographic Memory Underlie Organ-Selective Infectious Diseases

Ahmad Yatim et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299482 DOI 10.70962/CIS2026abstract.14
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Artículo 2026

Innovations in Care of Inborn Errors of Immunity in Brazil: CNE3I, the Brazilian National Center for Inborn Errors of Immunity and Immune Dysregulation Diseases

Leonardo Mendonca et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299306 DOI 10.70962/CIS2026abstract.74
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Artículo 2026

Integrating Functional, Structural, and Predictive Data in the Analysis of the Recombination Activating Gene (RAG) Genomic Variants

Gloria Magro et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299394 DOI 10.70962/CIS2026abstract.216
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Artículo 2026

Interferonopathies in Brazil: The Pivotal Role of the Interferon Signature for Diagnosis and for the Genetic Sequencing in the CNE3i

Leonardo Oliveira Mendonça et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299458 DOI 10.70962/CIS2026abstract.161
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Artículo 2026

Interim Safety and Efficacy Outcomes of an Open-Label Long-Term Extension Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4-11 Years with Activated PI3Kδ Syndrome (APDS)

V. Koneti Rao et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299393 DOI 10.70962/CIS2026abstract.217
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Artículo 2026

Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration

Jessica Galant-Swafford et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299392 DOI 10.70962/CIS2026abstract.218
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Artículo 2026

Invasive Haemophilus Influenzae Infection in a Neonate with an ERCC2-Related Disorder

David Roth et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299457 DOI 10.70962/CIS2026abstract.162
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Artículo 2026

Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort

Busranur Agac et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299391 DOI 10.70962/CIS2026abstract.219
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Artículo 2026

Investigation Into the Viscosity of Commercial IG Preparations

Suzanne Strasters et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299305 DOI 10.70962/CIS2026abstract.75
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Artículo 2026

IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes

Mattison P. Stojcic et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299389 DOI 10.70962/CIS2026abstract.220
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Artículo 2026

Isolated Factor X Deficiency as an Immune-Mediated Complication of Waldenström Macroglobulinemia

Divakara Gouda et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299456 DOI 10.70962/CIS2026abstract.163
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Artículo 2026

Janus Kinase Inhibitor Treatment Results in Rapid but Incomplete Immune Reconstitution and Resolution of Monocyte-Driven Hyperinflammation in STAT1 Gain-of-Function

Cecilia Iglesias Herrero et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299304 DOI 10.70962/CIS2026abstract.76
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Artículo 2026

Learning From Loss: Early Identification of ADA-SCID After Sibling Mortality

Amal Farooq et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299455 DOI 10.70962/CIS2026abstract.164
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Artículo 2026

Lower Disease Severity in STAT3 GOF Patients with Mild Potency Variants

Amy Park et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299303 DOI 10.70962/CIS2026abstract.77
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Artículo 2026

Macrophage Activation Syndrome in MDA5-Positive Dermatomyositis: A Diagnostic and Therapeutic Odyssey in a Young Adult

Abdul Muhaymin Zia et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299454 DOI 10.70962/CIS2026abstract.165
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Artículo 2026

Malignancy Is Associated with Disorders of Immunity in a Large U.S. Cohort: An All of Us Research Program Study

Derek MacMath et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299453 DOI 10.70962/CIS2026abstract.166
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Artículo 2026

Metabolic Stress Caused by Inadequate Glutamine Uptake in Activated T Cells Can Drive Th2 Cytokine Production in NRF2-Dependent Fashion

Lei Haley Huang et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299388 DOI 10.70962/CIS2026abstract.221
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