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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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Journal of Human Immunity

Autor no informado · Rockefeller University Press
Title ID 25199
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Journal of Human Immunity

Autor no informado · Rockefeller University Press; United States
Title ID 126152
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A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency

Hye Sun Kuehn et al. · 2026 · Rockefeller University Press
Title ID 299390 DOI 10.70962/CIS2026abstract.22
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A Case of HUPRA (Hyperuricemia, Pulmonary Hypertension, Renal failure, Alkalosis) with Immune Dysfunction

Payge Moraca et al. · 2026 · Rockefeller University Press
Title ID 299514 DOI 10.70962/CIS2026abstract.113
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A Case of T- B- NK+ SCID Without an Identifiable SCID Mutation

Doreen Khakshour et al. · 2026 · Rockefeller University Press
Title ID 299512 DOI 10.70962/CIS2026abstract.114
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A Case of the Immune System Actin Up: DOCK11 Deficiency

Jonathan Li et al. · 2026 · Rockefeller University Press
Title ID 299511 DOI 10.70962/CIS2026abstract.115
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A Case Report of Serum Sickness Following Administration of Equine Anti-Thymocyte Globulin in a Patient with Severe Aplastic Anemia.

Justin Doherty et al. · 2026 · Rockefeller University Press
Title ID 299509 DOI 10.70962/CIS2026abstract.116
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A De Novo Missense Variant in DKC1 Leading to Hoyeraal-Hreidarsson Syndrome

Olufolarin Oke et al. · 2026 · Rockefeller University Press
Title ID 299508 DOI 10.70962/CIS2026abstract.117
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A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome

Suk See De Ravin et al. · 2026 · Rockefeller University Press
Title ID 299528 DOI 10.70962/CIS2026abstract.1
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A Novel De Novo KMT2D Genetic Variant in Kabuki Syndrome: A Case Report

Marija Rowane et al. · 2026 · Rockefeller University Press
Title ID 299507 DOI 10.70962/CIS2026abstract.118
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A Novel Dominant-Negative IL-2Rβ Variant Underlies Immune Dysregulation Presenting with Lymphadenopathy and Evans Syndrome

Ahmet Eken et al. · 2026 · Rockefeller University Press
Title ID 299414 DOI 10.70962/CIS2026abstract.2
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A Novel IL6ST Variant in an Adolescent with Recurrent Abscesses and Eczema Treated with Dupilumab

Sarah Nimri et al. · 2026 · Rockefeller University Press
Title ID 299506 DOI 10.70962/CIS2026abstract.119
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A Novel Immunomodulatory Strategy to Control Multiple Immune Dysregulation Disorders in a Pediatric Patient

Jennifer D. Blackwood et al. · 2026 · Rockefeller University Press
Title ID 299382 DOI 10.70962/CIS2026abstract.23
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A Novel Intronic Deletion Causing “Deficiency in ELF4, X-Linked”

Bradly Bauman et al. · 2026 · Rockefeller University Press
Title ID 299504 DOI 10.70962/CIS2026abstract.120
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A Novel STAT3 N-Terminal Domain Variant Reveals an Alternative Mechanism of Disease Pathogenesis in Hyper-IgE Syndrome

Joe Mackie et al. · 2026 · Rockefeller University Press
Title ID 299381 DOI 10.70962/CIS2026abstract.24
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A Single Institution Experience with Pediatric Hemophagocytic Lymphohistiocytosis (pHLH)

Selina Demetrick et al. · 2026 · Rockefeller University Press
Title ID 299502 DOI 10.70962/CIS2026abstract.121
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A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)

Vaibhavi Vichare et al. · 2026 · Rockefeller University Press
Title ID 299380 DOI 10.70962/CIS2026abstract.25
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A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity

Jessica Galant-Swafford et al. · 2026 · Rockefeller University Press
Title ID 299413 DOI 10.70962/CIS2026abstract.20
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A Systems-Predicted Neutralizing Antibody Assay Identifies Compartment-Specific Features Correlating with Neutralization Breadth

Qixin Wang et al. · 2026 · Rockefeller University Press
Title ID 299409 DOI 10.70962/CIS2026abstract.203
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A Truncating NFKB1 Variant Presenting with Recurrent, Sterile Wound Inflammation, and Hypogammaglobulinemia

Kevin Ackerman et al. · 2026 · Rockefeller University Press
Title ID 299501 DOI 10.70962/CIS2026abstract.122
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A Whole-Blood Transcriptomic Assay, PrimDx, Reflects Cellular and Humoral Abnormalities in Primary Immunodeficiency

Holly Pedersen et al. · 2026 · Rockefeller University Press
Title ID 299375 DOI 10.70962/CIS2026abstract.3
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Adenine Ribonucleotide (AXP) Depletion Due to Inherited Deficiency of Adenosine Deaminase 1 (ADA)

Teresa K. Tarrant et al. · 2026 · Rockefeller University Press
Title ID 299379 DOI 10.70962/CIS2026abstract.26
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Age Alters Host Innate Immunity and Microbial Subcommunities in the Adult Upper Respiratory Tract

Catherine Andary et al. · 2026 · Rockefeller University Press
Title ID 299378 DOI 10.70962/CIS2026abstract.27
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Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency

Danielle Arnold et al. · 2026 · Rockefeller University Press
Title ID 299500 DOI 10.70962/CIS2026abstract.123
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An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine

Nicole Soucy et al. · 2026 · Rockefeller University Press
Title ID 299377 DOI 10.70962/CIS2026abstract.28
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An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity

Liangying Liu et al. · 2026 · Rockefeller University Press
Title ID 299376 DOI 10.70962/CIS2026abstract.29
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Antibiotic Allergies in Pediatric Patients Diagnosed with Hypogammaglobulinemia

Aden Goolsbee et al. · 2026 · Rockefeller University Press
Title ID 299374 DOI 10.70962/CIS2026abstract.30
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Autologous Ex Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile

Claire Booth et al. · 2026 · Rockefeller University Press
Title ID 299345 DOI 10.70962/CIS2026abstract.4
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Autopsies in Chronic Granulomatous Disease: A 35-Year Perspective

Beatriz E. Marciano et al. · 2026 · Rockefeller University Press
Title ID 299408 DOI 10.70962/CIS2026abstract.204
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Bespoke Base and Prime Editing Approaches for STING-Associated Vasculopathy with Onset in Infancy (SAVI)

Enrico Drago et al. · 2026 · Rockefeller University Press
Title ID 299334 DOI 10.70962/CIS2026abstract.5
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Beyond Airway Clearance: Specific Antibody Deficiency as a Driver of Refractory Sinopulmonary Disease in Primary Ciliary Dyskinesia

Nathaniel Srikureja, MD et al. · 2026 · Rockefeller University Press
Title ID 299498 DOI 10.70962/CIS2026abstract.124
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Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders

Paola Suhet et al. · 2026 · Rockefeller University Press
Title ID 299373 DOI 10.70962/CIS2026abstract.31
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Biological Understanding of Spondyloenchondrodysplasia (SPENCD) Caused by Damaging ACP5 Variants

Mattison Stojcic et al. · 2026 · Rockefeller University Press
Title ID 299372 DOI 10.70962/CIS2026abstract.32
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Cardiac Complexity Predicts Increased Immune Diagnostic Burden in 22q11.2 Deletion Syndrome

Jasmyn Atalla et al. · 2026 · Rockefeller University Press
Title ID 299371 DOI 10.70962/CIS2026abstract.33
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Caregiver- and Clinician-Reported Symptoms in Pediatric Patients with Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Receiving Leniolisib

Shanmuganathan Chandrakasan et al. · 2026 · Rockefeller University Press
Title ID 299370 DOI 10.70962/CIS2026abstract.34
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Caregivers of Children with APDS Balance Complex Medical Care, Family, and Work Responsibilities

Kristie Cline et al. · 2026 · Rockefeller University Press
Title ID 299499 DOI 10.70962/CIS2026abstract.125
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Cell-Free DNA Testing in Acute Infections in Chronic Granulomatous Disease

Amanda Holsworth et al. · 2026 · Rockefeller University Press
Title ID 299369 DOI 10.70962/CIS2026abstract.35
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Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing

Kevin Ackerman et al. · 2026 · Rockefeller University Press
Title ID 299367 DOI 10.70962/CIS2026abstract.36
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Characterizing Autoimmune and End-Organ Lympho-Infiltrative Disease Burden in Childhood-Onset Common Variable Immunodeficiency

Leon Reteig et al. · 2026 · Rockefeller University Press
Title ID 299366 DOI 10.70962/CIS2026abstract.37
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Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI

Ernest Hoptioncann et al. · 2026 · Rockefeller University Press
Title ID 299365 DOI 10.70962/CIS2026abstract.38
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Chronic Spontaneous Urticaria with Angioedema Refractory to Standard Therapy: Insights Into the Protean Nature of a Common Presentation

Nadia Makkoukdji et al. · 2026 · Rockefeller University Press
Title ID 299496 DOI 10.70962/CIS2026abstract.126
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Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National Cohort

Marcia Toraiwa Iwashita et al. · 2026 · Rockefeller University Press
Title ID 299346 DOI 10.70962/CIS2026abstract.39
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Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National Cohort

Leonardo Oliveira Mendonça et al. · 2026 · Rockefeller University Press
Title ID 299497 DOI 10.70962/CIS2026abstract.127
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Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

Paola Suhet et al. · 2026 · Rockefeller University Press
Title ID 299344 DOI 10.70962/CIS2026abstract.40
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Clinical Experience with Use of the PI3Kdelta Inhibitor Leniolisib to Treat Immune Dysregulation in Patients with CVID and CVID-Like Disorders

Gulbu Uzel et al. · 2026 · Rockefeller University Press
Title ID 299343 DOI 10.70962/CIS2026abstract.41
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Clinical Implications of Baseline-Corrected Total Immunoglobulin G Levels: Pharmacokinetic Data from a Phase 3, Open-Label Study of Patients with Primary Immunodeficiency Disease Treated with fSCIG 10%

Komal Prem et al. · 2026 · Rockefeller University Press
Title ID 299495 DOI 10.70962/CIS2026abstract.128
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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study

Brinda Prasanna Kumar et al. · 2026 · Rockefeller University Press
Title ID 299494 DOI 10.70962/CIS2026abstract.129
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Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

Julia Körholz et al. · 2026 · Rockefeller University Press
Title ID 299341 DOI 10.70962/CIS2026abstract.42
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Co-Segregation of Pyoderma Gangrenosum and a Heterozygous NFKB1 Variant in a Large Kindred: An Autoinflammatory CVID-Like Phenotype

Zsuzsanna Gaal et al. · 2026 · Rockefeller University Press
Title ID 299488 DOI 10.70962/CIS2026abstract.134
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Coexistent Alterations of BAFF and B Cell Biology Associated with CVID Complications

Erik Matson et al. · 2026 · Rockefeller University Press
Title ID 299323 DOI 10.70962/CIS2026abstract.6
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