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Journal Articles

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

Jasmyn Atalla, Blaine Crowley, Kathleen Sullivan, Jennifer Heimall, Donna Mcdonald-Mcginn, Timothy Buckey

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.99.

https://doi.org/10.70962/CIS2026abstract.99

Published: 01 May 2026

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

Journal Articles

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

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.80.

https://doi.org/10.70962/CIS2026abstract.80

Published: 01 May 2026

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

Journal Articles

A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)

Vaibhavi Vichare, Monica Molina, Russell D'Aiello, Gonench Kilich, Charlotte Cunningham Rundles, Roshini Abraham, Jennifer Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.25.

https://doi.org/10.70962/CIS2026abstract.25

Published: 01 May 2026

View article titled, A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)

Journal Articles

Identification of a Novel Deleterious RIPK1 Variant

Latoya Jeanpierre, MD, MS, Alexandra Grier, MD, PhD, Jasmyn Atalla, MD, Maria Sacta, MD, PhD, Judith Kelsen, MD, Kathleen Sullivan, MD, PhD

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.70.

https://doi.org/10.70962/CIS2026abstract.70

Published: 01 May 2026

View article titled, Identification of a Novel Deleterious RIPK1 Variant

Journal Articles

Cardiac Complexity Predicts Increased Immune Diagnostic Burden in 22q11.2 Deletion Syndrome

Jasmyn Atalla, Blaine Crowley, Kathleen Sullivan, Jennifer Heimall, Donna Mcdonald-Mcginn, Timothy Buckey

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.33.

https://doi.org/10.70962/CIS2026abstract.33

Published: 01 May 2026

View article titled, Cardiac Complexity Predicts Increased Immune Diagnostic Burden in 22q11.2 Deletion Syndrome

Journal Articles

USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains

Estefanía Vásquez-Echeverri, Vaibhavi Vichare, Monica Molina, Russell D’Aiello, Gonench Kilich, Charlotte Cunningham Rundles, Jennifer M. Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.199.

https://doi.org/10.70962/CIS2026abstract.199

Published: 01 May 2026

View article titled, USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains

Journal Articles

Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing

Kevin Ackerman, Chris Penney, Pavle Milutinovic, Kathleen Sullivan

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.36.

https://doi.org/10.70962/CIS2026abstract.36

Published: 01 May 2026

View article titled, Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing

Includes: Supplementary data

Journal Articles

A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot

Gonench Kilich, Kelly Maurer, Christopher Breen, Erica Schindewolf, Kelly Hassey, Priscila Cunha, Trusha Patel, Maire Conrad, Brooke Boyer, Judith Kelsen, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.143.

https://doi.org/10.70962/CIS2025abstract.143

Published: 25 April 2025

View article titled, A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot

Journal Articles

Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations

Gonench Kilich, Erica Schindewolf, Lauren Lairson, Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Kelly Hassey, Adeline Vanderver, Rebecca Ganetzky, Cara Skraban, Christopher Breen, Ramakrishnan Rajagopalan, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.147.

https://doi.org/10.70962/CIS2025abstract.147

Published: 25 April 2025

View article titled, Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations

Journal Articles

Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections

Nouf Alsaati, Katherine Beigel, Kelly Maurer, Montana Knight, Donna McDonald-McGinn, T. Blaine Crowley, Sarah Henrickson, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.5.

https://doi.org/10.70962/CIS2025abstract.5

Published: 25 April 2025

View article titled, Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections

Journal Articles

Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia

Samantha Starkey, Kelly Maurer, Anne Bassett, Sarah Henrickson, Audrey Green, Victoria Guinta, Daniel McGinn, Bekah Wang, T. Blaine Crowley, Donna McDonald-McGinn, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.114.

https://doi.org/10.70962/CIS2025abstract.114

Published: 25 April 2025

View article titled, Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia

Journal Articles

United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building

Vaibhavi Vichare, Gonench Kilich, Charlotte Cunningham Rundles, Jennifer Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.155.

https://doi.org/10.70962/CIS2025abstract.155

Published: 25 April 2025

View article titled, United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building

Journal Articles

Immunoglobulin Replacement Therapy in a Child with EIF2AK2-Related LEUDEN Syndrome and Antibody Deficiency

Samantha Leong, Adeline Vanderver, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.179.

https://doi.org/10.70962/CIS2025abstract.179

Published: 25 April 2025

View article titled, Immunoglobulin Replacement Therapy in a Child with EIF2AK2-Related LEUDEN Syndrome and Antibody Deficiency

Journal Articles

Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency

Daniela Cleves, Sonia Restrepo-Gualteros, Gustavo Nino, Charlotte Cunningham-Rundles, Ramsay Fuleihan, Kathleen Sullivan, Maria Gutierrez

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.86.

https://doi.org/10.70962/CIS2025abstract.86

Published: 25 April 2025

View article titled, Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency

Journal Articles

VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement

Gonench Kilich, Erica Schindewolf, Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Edward Behrens, Kelly Hassey, Adeline Vanderver, Rebecca Ganetzky, Cara Skraban, Ramakrishnan Rajagopalan, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.145.

https://doi.org/10.70962/CIS2025abstract.145

Published: 25 April 2025

View article titled, VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement

Journal Articles

Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry

Michelle Onyekaba, Gonench Kilich, Vaibhavi Vichare, Charlotte Cunningham Rundles, Jennifer Puck, Ramsay Fuleihan, Rebecca Marsh, Luigi Notarangelo, Roshini Abraham, Kathleen Sullivan

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.185.

https://doi.org/10.70962/CIS2025abstract.185

Published: 25 April 2025

View article titled, Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry

Journal Articles

Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program

Scott Canna, Whitney Petrosa, Hana Conlon, Adriana LaMonte, Eliza Octavo, Jessica Lee, Hamid Bassiri, Caroline Diorio, Kandace Gollomp, Sarah Henrickson, Judith Kelsen, Michele Lambert, Neil Romberg, Alix Seif, Kathleen Sullivan, David Teachey, Edward Behrens

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.37.

https://doi.org/10.70962/CIS2025abstract.37

Published: 25 April 2025

View article titled, Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program

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

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

A Site-Specific LLM-Based PHI Redaction Tool to Support Note De-Identification for the United States Immunodeficiency Network (USIDNET)

Identification of a Novel Deleterious RIPK1 Variant

Cardiac Complexity Predicts Increased Immune Diagnostic Burden in 22q11.2 Deletion Syndrome

USIDNET Has Robust Longitudinal Data Across Multiple EMR Domains

Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing

A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot

Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations

Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections

Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia

United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building

Immunoglobulin Replacement Therapy in a Child with EIF2AK2-Related LEUDEN Syndrome and Antibody Deficiency

Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency

VPS45 Deficiency with Features of Hemophagocytic Lymphohistiocytosis and Progressive Neurologic Involvement

Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry

Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program

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