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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

Mosaic KRAS Mutation Leading to RAS-Associated Autoimmune Leukoproliferative Disorder

Batoul Basalom et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299452 DOI 10.70962/CIS2026abstract.167
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Artículo 2026

Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED

Iivo Hetemaeki et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299471 DOI 10.70962/CIS2026abstract.15
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Artículo 2026

Multiple Bouts of Hypothermia and Shock in a Child with Gata-2 Mutation

Kristin Hanscom et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299302 DOI 10.70962/CIS2026abstract.78
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Artículo 2026

MYB Haploinsufficiency Causes Familial Autoimmune Cytopenias

Aaron Boothby et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299460 DOI 10.70962/CIS2026abstract.16
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Artículo 2026

Neonatal T Cell Lymphopenia as Presenting Finding in Bone Marrow Failure Syndrome

Sheva Chervinskiy et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299451 DOI 10.70962/CIS2026abstract.168
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Artículo 2026

Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study

E.A. Polyakova et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299450 DOI 10.70962/CIS2026abstract.169
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Artículo 2026

NFKB1 Truncating Variants Associated with Significant Autoimmunity and Lymphoproliferation in Common Variable Immunodeficiency

Chi Ma et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299387 DOI 10.70962/CIS2026abstract.222
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Artículo 2026

Nibling of MHC Class II by Tfh Cells—Possible Role in Isotype Switching and Affinity Maturation

Rajni Kumrah et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299301 DOI 10.70962/CIS2026abstract.79
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Artículo 2026

Nominating Genetically Driven Immune Disease Genes for BEACONS: The First U.S. Multistate Genomic Newborn Screening Initiative

Xiao P. Peng et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299299 DOI 10.70962/CIS2026abstract.80
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Artículo 2026

Novel FOXN1 Variant as Cause of Neonatal T Cell Lymphopenia

Sonia Joshi et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299448 DOI 10.70962/CIS2026abstract.170
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Artículo 2026

Novel NLRC4 Variant in a Young Female with Recurrent Rash and Fever

Shifaa Alkotob et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299446 DOI 10.70962/CIS2026abstract.171
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Artículo 2026

Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency

Muslima Hussain et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299298 DOI 10.70962/CIS2026abstract.81
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Artículo 2026

Novel Senolytic Clinical Trial in CVID with GLILD

Mitchell Dittus et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299386 DOI 10.70962/CIS2026abstract.223
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Artículo 2026

On-Demand Personalized Gene Editing to Treat IRF4 p.T95A Immunodeficiency

Vasil Toskov et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299449 DOI 10.70962/CIS2026abstract.17
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Artículo 2026

One Solid Differential: Thyroid Cancer as a Hypereosinophilic Syndrome Trigger

Amir Abidov et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299297 DOI 10.70962/CIS2026abstract.82
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Artículo 2026

Out of the TERT and Into the PARN: Sequential Telomere Biology Disorder Variants in a Single Patient

Andrew Wong-Pack et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299296 DOI 10.70962/CIS2026abstract.83
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Artículo 2026

Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience

Erin Morales et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299295 DOI 10.70962/CIS2026abstract.84
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Artículo 2026

Overlap in Immunologic Pathways Between Asthma and Primary Immunodeficiency Disorders

Jooyoung Moon · Rockefeller University Press · ISSN 3065-8993
Title ID 299445 DOI 10.70962/CIS2026abstract.172
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Artículo 2026

Paternal Inheritance of a Likely Pathogenic Variant of NFKB2 in the Setting of CVID in a 4-Year-Old

Noorvir Kaur et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299443 DOI 10.70962/CIS2026abstract.174
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Artículo 2026

Pediatric and Adolescent Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS): Demographic and Clinical Findings from the APDS-Characterization and Clinical Outcomes Immunologic Registry (APDS-CHOIR)

Nicholas Rider et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299294 DOI 10.70962/CIS2026abstract.85
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Artículo 2026

Peripheral Expression of FOXP3 in Brazilian Patients with IPEX Syndrome: From FOXP3 Biomarker to Targeted FOXP3 Therapy Within the CNE3I

Leonardo Oliveira Mendonça et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299442 DOI 10.70962/CIS2026abstract.175
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Artículo 2026

PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants

Alexander Vargas-Hernández et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299293 DOI 10.70962/CIS2026abstract.86
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Artículo 2026

Post-Covid-19 Rise in Postural Orthostatic Tachycardia Syndrome and Antibody Deficiency: Exploring Immunoglobulin Therapy for Symptom Management

Erin Pratt, MD et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299444 DOI 10.70962/CIS2026abstract.173
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Artículo 2026

Potential Association Between G6PD Deficiency and Severe B Cell Lymphopenia Identified by KREC-Based Newborn Screening (NBS) in Brazil

Mariana Gouveia-Pereira Pimentel et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299292 DOI 10.70962/CIS2026abstract.87
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Artículo 2026

Preexisting Antibodies to Virus-Like Particles (VLP) Derived from Helper-Dependent Adenovirus (HDAd) in Patients with Chronic Granulomatous Disease (CGD)

Claire Booth et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299291 DOI 10.70962/CIS2026abstract.88
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Artículo 2026

Prevention of Irreversible Autoimmune Endocrinopathies in APECED with Ruxolitinib

Joseph Pechacek et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299290 DOI 10.70962/CIS2026abstract.89
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Artículo 2026

Primary Immune Regulatory Disorder with Features of Behçet’s Disease: The Role of Persistent CMV Viremia in Inflammatory Bowel Disease Pathogenesis

Fatemah AlYaqout et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299441 DOI 10.70962/CIS2026abstract.176
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Artículo 2026

PRIORITY Study: Baseline and Post-Rituximab Immune Profiles in a Pediatric Cohort

Dr. Jenny Garkaby et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299440 DOI 10.70962/CIS2026abstract.177
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Artículo 2026

Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?

Dimana Dimitrova et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299385 DOI 10.70962/CIS2026abstract.224
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Artículo 2026

Quality of Life in Patients with Severe Combined Immunodeficiency (SCID) Treated with Hematopoietic Cell Transplantation in the Modern Era: A Primary Immune Deficiency Consortium (PIDTC) Study

Lauren Sanchez et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299288 DOI 10.70962/CIS2026abstract.90
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Artículo 2026

Recurrent Aphthous Stomatitis, Gastrointestinal Inflammation, and Hyperinflammatory Features in a Child with IgA Deficiency: A Diagnostic Dilemma

Yossef Goffer et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299439 DOI 10.70962/CIS2026abstract.178
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Artículo 2026

Recurrent Gluteal Abscesses in Infancy as an Early Presentation of A20 Haploinsufficiency

Jonathan Lim et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299287 DOI 10.70962/CIS2026abstract.91
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Artículo 2026

Recurrent Infections and EGID in CARMIL2 Deficiency

Karl Mueller et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299286 DOI 10.70962/CIS2026abstract.92
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Artículo 2026

Recurrent Parvovirus B19 Infection in Pediatric Heart Transplant Recipients

James Senter et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299285 DOI 10.70962/CIS2026abstract.93
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Artículo 2026

Regional and Racial Variations in IgGRT Use and Long-Term Disease Progression Among U.S. CVID Patients

Roxanna Farzad et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299438 DOI 10.70962/CIS2026abstract.179
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Artículo 2026

Retrospective Crossover of Patients with Primary Immunodeficiency Switching from Standard Immune Globulin Replacement Therapy to ASCENIV

Barbara Prosser et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299436 DOI 10.70962/CIS2026abstract.180
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Artículo 2026

Risk Factors for Persistent Hypogammaglobulinemia in Pediatric and Young Adult Patients Receiving Rituximab

Kevin Ackerman et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299284 DOI 10.70962/CIS2026abstract.94
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Artículo 2026

Roifman Revisited: Embracing the spectrum of RNU4ATAC-Opathies

Victoria Dimitriades · Rockefeller University Press · ISSN 3065-8993
Title ID 299435 DOI 10.70962/CIS2026abstract.181
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Artículo 2026

Ruxolitinib as a Targeted Therapy for Arthritis and Alopecia Universalis in a Child with APECED: A Case Report

Amer Khojah et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299434 DOI 10.70962/CIS2026abstract.182
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Artículo 2026

S220 Variants of Human CD48 Result in Aberrant Glycosylphosphatidylinositol (GPI) Linkage and Dominant-Negative CD48 Cellular Deficiency

Erin Kim et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299283 DOI 10.70962/CIS2026abstract.95
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Artículo 2026

Safety of Janus Kinase Inhibitors in Individuals with Down Syndrome: A Systematic Review

Kasama Manothummetha et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299433 DOI 10.70962/CIS2026abstract.183
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Artículo 2026

Scoring Thoracic CT Scans of Patients with NFKB1-Related Disease for Clinical Management and Treatment Studies Using Four Parameters (Adapted from the Hartmann Score)

Katharina Thoma et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299282 DOI 10.70962/CIS2026abstract.96
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Artículo 2026

Seasonal Surge of Steroid-Refractory T Cell–Mediated Hepatitis in Phoenix: A Cascade of Cases and Treatment Dilemmas

Lance Milovancev et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299431 DOI 10.70962/CIS2026abstract.184
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Artículo 2026

Selective IgM Deficiency with Combined Lymphocyte Abnormalities and Aortic Root Dilation: A Potential Novel Inborn Error of Immunity

Aashna Thakur et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299432 DOI 10.70962/CIS2026abstract.185
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Artículo 2026

Serum IL-18 as a Predictive Biomarker for Systemic Inflammation in XIAP Deficiency: A Retrospective Analysis

Bridget Forde et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299430 DOI 10.70962/CIS2026abstract.186
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Artículo 2026

Severe B Cell Lymphocytosis with Autoimmune Cytopenia and Lymphoproliferative Disease in an Infant with a CARD11 Gain-of-Function Mutation

Batoul Basalom et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299281 DOI 10.70962/CIS2026abstract.97
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Artículo 2026

Severe Hyperinflammation and Evans Syndrome in Patient with RelA Deficiency Successfully Treated with Infliximab

Jamie Loutfy et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299429 DOI 10.70962/CIS2026abstract.187
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Artículo 2026

Severe Multisystem Autoimmunity and Atopy in a Child with a Loss-of-Function IKAROS Variant

Ashay Chandra, MD et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299266 DOI 10.70962/CIS2026abstract.98
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Artículo 2026

Shorter Distance to Main Academic Center Associated with Better Longitudinal Care and Follow-Up in Adult Patients with 22q11.2 Deletion Syndrome

Jasmyn Atalla et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299262 DOI 10.70962/CIS2026abstract.99
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Artículo 2026

SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease

Farsh Moussavi-Harami et al. · Rockefeller University Press · ISSN 3065-8993
Title ID 299437 DOI 10.70962/CIS2026abstract.18
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