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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

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

Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families

Paola Suhet, Evan Potts, Ezgi Nur Alper, Philip Mendez, Serena Shaffren, Emily Ammon, Marita Bosticardo, Christian Wysocki, Nicolai Von Oers, John Sleasman, Marco Yamazaki-Nakashimada, Safa Baris, Svetlana Sharapova, Luigi Notarangelo, Austen Worth, Alexandra Kreins, Jolan Walter

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.53.

https://doi.org/10.70962/CIS2026abstract.53

Published: 01 May 2026

View article titled, Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families

Journal Articles

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4^−/− severe combined immunodeficiency

Alexandra E. Grier, Marita Bosticardo, Francesca Pala, Ottavia M. Delmonte, Kayla Amini, Eduardo Anaya, Neil Romberg, Susan E. McClory, Nancy J. Bunin, Manar Abdalgani, Luigi D. Notarangelo, Jennifer Heimall

J Hum Immun (2026) 2 (3): e20250169.

https://doi.org/10.70962/jhi.20250169

Published: 06 March 2026

View article titled, Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency

Journal Articles

Clinical Variance in an International Cohort of Families with Dominant-Negative FOXN1 Mutations

Evan Potts, Ezgi Nur Alper, Philip Mendez, Serena Shaffren, Paola Suhet, Emily Ammon, Marita Bosticardo, Christian Wysocki, Nicolai Van Oers, John Sleasman, Marco Yamazaki-Nakashimada, Safa Baris, Svetlana Sharapova, Luigi Notarangelo, Austen Worth, Alexandra Kreins, Jolan Walter

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.10.

https://doi.org/10.70962/LASID2025abstract.10

Published: 22 December 2025

View article titled, Clinical Variance in an International Cohort of Families with Dominant-Negative FOXN1 Mutations

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

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

Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4^−/− severe combined immunodeficiency

Clinical Variance in an International Cohort of Families with Dominant-Negative FOXN1 Mutations

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