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A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency

Hye Sun Kuehn, Azzeddine Tahiat, Ana Esteve-Sole, Jennifer Stoddard, Julie Niemela, Agustin Gil Silva, Marita Bosticardo, Ottavia Delmonte, Luigi Notarangelo, Sergio Rosenzweig

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.22.

https://doi.org/10.70962/CIS2026abstract.22

Published: 01 May 2026

View article titled, A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency

Journal Articles

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

Busranur Agac, Jessica Durkee-Shock, Sara Zahraeifard, Mauricio Campillay, Ezra Klein, Alexandra F. Freeman, Jenna Bergerson, Ottavia Delmonte, Lindsey B. Rosen, Annalie J. Harris, Megan Cooper, Luigi D. Notarangelo, Christa S. Zerbe, Steven M. Holland, Gulbu Uzel, NIAID Central Sequencing Program, Yair Mina, Irene Cortese

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.219.

https://doi.org/10.70962/CIS2026abstract.219

Published: 01 May 2026

View article titled, Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort

Journal Articles

A Novel Dominant-Negative IL-2Rβ Variant Underlies Immune Dysregulation Presenting with Lymphadenopathy and Evans Syndrome

Ahmet Eken, Berenice Cabrera-Martinez, Ottavia Delmonte, Katie Mills, Adrianna Vlachos, Jennifer Leiding, Elena W.Y. Hsieh

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

https://doi.org/10.70962/CIS2026abstract.2

Published: 01 May 2026

View article titled, A Novel Dominant-Negative IL-2Rβ Variant Underlies Immune Dysregulation Presenting with Lymphadenopathy and Evans Syndrome

Journal Articles

Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Giuseppe Sangiorgio, Francesca Pala, Kayla Amini, Eduardo Anaya, Sarah Dinges, Ottavia Delmonte, Alexandra Freeman, Alexandra Kreins, E. Graham Davies, Horst von Bernuth, Cathleen Collins, Maria Teresa de la Morena, Melinda M. Rathkopf, Dusan Bogunovic, Marita Bosticardo, Luigi D. Notarangelo

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.8.

https://doi.org/10.70962/CIS2026abstract.8

Published: 01 May 2026

View article titled, Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Journal Articles

Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency

Danielle Arnold, Jenna Bergerson, Luigi Notarangelo, Sung-Yun Pai, Ottavia Delmonte

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.123.

https://doi.org/10.70962/CIS2026abstract.123

Published: 01 May 2026

View article titled, Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency

Journal Articles

Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.95.

https://doi.org/10.70962/CIS2025abstract.95

Published: 25 April 2025

View article titled, Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity

Journal Articles

Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.120.

https://doi.org/10.70962/CIS2025abstract.120

Published: 25 April 2025

View article titled, Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

Journal Articles

Primary Immunodeficiency Initially Identified as Sarcoidosis

Samantha Shafer, Chioma Udemgba, Beatriz Marciano, Amy Hsu, Christa Zerbe, Gulbu Uzel, Harry Malech, Jeffrey Cohen, Joseph Fontana, Jessica Durkee-Shock, Ottavia Delmonte, Steven Holland

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.171.

https://doi.org/10.70962/CIS2025abstract.171

Published: 25 April 2025

View article titled, Primary Immunodeficiency Initially Identified as Sarcoidosis

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A Biallelic HELIOS Nonsense Mutation Disrupting Dimerization Is Associated with a Novel Syndromic Immunodeficiency

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

A Novel Dominant-Negative IL-2Rβ Variant Underlies Immune Dysregulation Presenting with Lymphadenopathy and Evans Syndrome

Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency

Norovirus Infection at the NIH Clinical Center from 2010 to 2023: A Comparative Analysis of Acute vs. Chronic Norovirus Infection with a Focus on Inborn Errors of Immunity

Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

Primary Immunodeficiency Initially Identified as Sarcoidosis

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