Page 1 | Search Results | Journal of Human Immunity | Rockefeller University Press

Skip to Main Content

Skip Nav Destination

1-4 of 4

Sort by

Sort Order Select

Journal Articles

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

Disease-Causing STAT3 Variants Can Be Discriminated by a Functional Flow Cytometry Test

Ana Esteve-Sole, Alexandra F. Freeman, Amy Hsu, Tiphanie P. Vogel, Lisa R. Forbes Satter, Jenna R.E. Bergerson, Taura Webb, Joseph Pechacek, Kristen McDaniels, Megan A. Cooper, Carolina Bouso, Matias Oleastro, Silvia Denielian, Luis Ignacio Gonzalez-Granado, Michail S. Lionakis, Steven M. Holland, Thomas A. Fleisher, HyeSun Kuehn, Sergio Rosenzweig

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.208.

https://doi.org/10.70962/CIS2026abstract.208

Published: 01 May 2026

View article titled, Disease-Causing STAT3 Variants Can Be Discriminated by a Functional Flow Cytometry Test

Journal Articles

Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Juyoung Kim, Luis I. González-Granado, Alejandro D. Iglesias, Jennifer L. Stoddard, Ana Esteve-Sole, Julie E. Niemela, Agustin A. Gil Silva, Hye Sun Kuehn, Sergio D. Rosenzweig

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.52.

https://doi.org/10.70962/CIS2026abstract.52

Published: 01 May 2026

View article titled, Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Journal Articles

PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.110.

https://doi.org/10.70962/CIS2025abstract.110

Published: 25 April 2025

View article titled, PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration