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

Artículo 2026

Sirolimus as Successful Treatment in Children with Chronic/Refractory Primary Autoimmune Hemolytic Anemia

Maurizio Miano et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299526 DOI 10.70962/CIS2026abstract.100

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Artículo 2026

STAT1 Gain-of-Function with a Novel Clinical Manifestation: Recurrent Pancreatitis Associated with Hypertriglyceridemia and Anti-GPIHBP1 Autoantibodies

Areum Shin et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299428 DOI 10.70962/CIS2026abstract.188

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Artículo 2026

Steroid-Refractory Idiopathic Hypereosinophilic Syndrome with Prolonged Respiratory Failure Responsive to Mepolizumab

Vaishnavi Siripurapu et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299427 DOI 10.70962/CIS2026abstract.189

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Artículo 2026

Structure-Guided Characterization of STAT1 Mutations: Integrating In Silico Modeling with Functional and Transcriptional Validation

Cecilia Iglesias Herrero et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299525 DOI 10.70962/CIS2026abstract.101

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Artículo 2026

Subgroup of 22q11.2 Deletion Syndrome Patients Have Blood-Borne 16S Bacterial DNA Signatures Associated with Gut Commensals

Prithvi Raj et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299523 DOI 10.70962/CIS2026abstract.102

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Artículo 2026

Successful Allogeneic Hematopoietic Cell Transplantation in Two Patients with IL-12Rβ1 Deficiency

Alexandra Freeman et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299524 DOI 10.70962/CIS2026abstract.103

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Artículo 2026

Suspected STAT3-Related Hyper-IgE Syndrome in a Toddler with a Novel STAT3 Variant of Uncertain Significance

Melissa Trofa et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299522 DOI 10.70962/CIS2026abstract.104

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Artículo 2026

Symptom Changes in Pediatric Patients with Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Receiving Leniolisib

Rohith Jesudas et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299521 DOI 10.70962/CIS2026abstract.105

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Artículo 2026

The CARD11–BCL10–MALT1 (CBM) Complex Regulates Nutrient Transport and mTORC1 Activation to Shape CD4+ T Cell Differentiation

Allison Ruchinskas et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299384 DOI 10.70962/CIS2026abstract.225

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Artículo 2026

The Essential Role of Genetic Evaluation in Prepubertal Systemic Lupus Erythematosus

Hilary Kleppel et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299425 DOI 10.70962/CIS2026abstract.190

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Artículo 2026

The Hao-Fountain Syndrome Gene USP7 Restricts Neurotropic Orthoflavivirus Entry via Intrinsic Antiviral Activity

Boris Bonaventure et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299383 DOI 10.70962/CIS2026abstract.226

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Artículo 2026

The Role of IFNγ in the Pathogenesis of Good Syndrome

Iivo Hetemaeki et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299426 DOI 10.70962/CIS2026abstract.19

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Artículo 2026

The Role of TLR4 Gene Polymorphisms in the Development of Severe Sepsis in Oncohematological Patients with Acquired Immunological Disorders

E. Polyakova et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299424 DOI 10.70962/CIS2026abstract.191

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Artículo 2026

Thriving Without Transplant: A Case of X-Linked Hyper-IgM Syndrome with Near-Normal Quality of Life on IVIG

Nikhil Chowdary Peddi et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299423 DOI 10.70962/CIS2026abstract.192

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Artículo 2026

Thrombotic Microangiopathy in a Child with C1q Deficiency and Lupus Nephritis

Sathi Wijeyesinghe et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299421 DOI 10.70962/CIS2026abstract.193

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Artículo 2026

Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variantThymic output in human newborns

Ziyang Tan et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 315848 DOI 10.70962/jhi.20260003

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Artículo 2026

TLR8 Gain-of-Function Syndrome Patient with Hemophagocytic Lymphohistiocytosis Treated with Emapalumab

John Barber et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299520 DOI 10.70962/CIS2026abstract.107

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Artículo 2026

Transforming Diagnosis of Primary Immunodeficiency: Global Impact of Jeffrey Modell Foundation’s Genetic Sequencing Program, Jeffrey’s Insights

Jessica Quinn et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299420 DOI 10.70962/CIS2026abstract.194

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Artículo 2026

Treatment of Germline TET2 Deficiency with a Hypomethylating Agent

Cheryl A.C. Peretz et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299519 DOI 10.70962/CIS2026abstract.108

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Artículo 2026

Two Sides of the Same Coin, Pathogenic RTEL1 Mutations

Andrew Wong-Pack et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299419 DOI 10.70962/CIS2026abstract.195

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Artículo 2026

Two TYK2-Deficient Cases with Divergent Clinical Presentations

Sara Sebnem Kilic et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299418 DOI 10.70962/CIS2026abstract.196

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Artículo 2026

Unmasked by Pregnancy: A Case of Latent Hypogammaglobulinemia with a Familial Link to CVID

Ammarah Spall et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299417 DOI 10.70962/CIS2026abstract.197

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Artículo 2026

Unmasking GATA2 Deficiency in an Adult with a Nocardia Brain Abscess

Jonathan Barratt et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299416 DOI 10.70962/CIS2026abstract.198

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Artículo 2026

Unmasking Primary Immunodeficiency After Rituximab

Carson Ercanbrack et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299517 DOI 10.70962/CIS2026abstract.109

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Artículo 2026

Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID

Renee Crawford et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299516 DOI 10.70962/CIS2026abstract.110

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Artículo 2026

Updated and Initial Validation of Warning Signs: Western Expert-Based Pidcap Delphi Project

Jacques G. Rivière et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299515 DOI 10.70962/CIS2026abstract.111

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Artículo 2026

Use of Sirolimus and Immunoglobulin Replacement Therapy (IRT) in Patients with Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS): A Systematic Literature Review (SLR)

Nicholas L. Hartog et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299513 DOI 10.70962/CIS2026abstract.112

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Artículo 2026

USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains

Estefanía Vásquez-Echeverri et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299415 DOI 10.70962/CIS2026abstract.199

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Artículo 2026

Viral or Autoimmune? Acute Encephalitis in the Setting of Newly Diagnosed Primary Immunodeficiency

Vickie Xin et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299412 DOI 10.70962/CIS2026abstract.200

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Artículo 2026

VUS in Familial Novel COPA Variant: Two Related Cases with Cutaneous Manifestations

Salma Alkhammash et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299411 DOI 10.70962/CIS2026abstract.201

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Artículo 2026

X-linked SEPTIN6-related congenital neutropenia and B cell deficiencySEPTIN6-related disease

Lauren M. Gunderman et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 315816 DOI 10.70962/jhi.20250173

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Artículo 2026

XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

Sean Duke et al. · Rockefeller University Press · ISSN 3065-8993

Title ID 299410 DOI 10.70962/CIS2026abstract.202

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

Contenidos de la revista

Sirolimus as Successful Treatment in Children with Chronic/Refractory Primary Autoimmune Hemolytic Anemia

STAT1 Gain-of-Function with a Novel Clinical Manifestation: Recurrent Pancreatitis Associated with Hypertriglyceridemia and Anti-GPIHBP1 Autoantibodies

Steroid-Refractory Idiopathic Hypereosinophilic Syndrome with Prolonged Respiratory Failure Responsive to Mepolizumab

Structure-Guided Characterization of STAT1 Mutations: Integrating In Silico Modeling with Functional and Transcriptional Validation

Subgroup of 22q11.2 Deletion Syndrome Patients Have Blood-Borne 16S Bacterial DNA Signatures Associated with Gut Commensals

Successful Allogeneic Hematopoietic Cell Transplantation in Two Patients with IL-12Rβ1 Deficiency

Suspected STAT3-Related Hyper-IgE Syndrome in a Toddler with a Novel STAT3 Variant of Uncertain Significance

Symptom Changes in Pediatric Patients with Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Receiving Leniolisib

The CARD11–BCL10–MALT1 (CBM) Complex Regulates Nutrient Transport and mTORC1 Activation to Shape CD4+ T Cell Differentiation

The Essential Role of Genetic Evaluation in Prepubertal Systemic Lupus Erythematosus

The Hao-Fountain Syndrome Gene USP7 Restricts Neurotropic Orthoflavivirus Entry via Intrinsic Antiviral Activity

The Role of IFNγ in the Pathogenesis of Good Syndrome

The Role of TLR4 Gene Polymorphisms in the Development of Severe Sepsis in Oncohematological Patients with Acquired Immunological Disorders

Thriving Without Transplant: A Case of X-Linked Hyper-IgM Syndrome with Near-Normal Quality of Life on IVIG

Thrombotic Microangiopathy in a Child with C1q Deficiency and Lupus Nephritis

Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variantThymic output in human newborns

TLR8 Gain-of-Function Syndrome Patient with Hemophagocytic Lymphohistiocytosis Treated with Emapalumab

Transforming Diagnosis of Primary Immunodeficiency: Global Impact of Jeffrey Modell Foundation’s Genetic Sequencing Program, Jeffrey’s Insights

Treatment of Germline TET2 Deficiency with a Hypomethylating Agent

Two Sides of the Same Coin, Pathogenic RTEL1 Mutations

Two TYK2-Deficient Cases with Divergent Clinical Presentations

Unmasked by Pregnancy: A Case of Latent Hypogammaglobulinemia with a Familial Link to CVID

Unmasking GATA2 Deficiency in an Adult with a Nocardia Brain Abscess

Unmasking Primary Immunodeficiency After Rituximab

Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID

Updated and Initial Validation of Warning Signs: Western Expert-Based Pidcap Delphi Project

Use of Sirolimus and Immunoglobulin Replacement Therapy (IRT) in Patients with Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS): A Systematic Literature Review (SLR)

USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains

Viral or Autoimmune? Acute Encephalitis in the Setting of Newly Diagnosed Primary Immunodeficiency

VUS in Familial Novel COPA Variant: Two Related Cases with Cutaneous Manifestations

X-linked SEPTIN6-related congenital neutropenia and B cell deficiencySEPTIN6-related disease

XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray