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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

Nouf Faisal Alsaati, Sebastian Ochoa Gonzalez, Ivan Chinn

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.54.

https://doi.org/10.70962/CIS2026abstract.54

Published: 01 May 2026

View article titled, Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

Journal Articles

The Role of IFNγ in the Pathogenesis of Good Syndrome

Iivo Hetemaeki, Wang Chen, Rachel Wu, Sebastian Ochoa, Alexandra F. Freeman, Katherine Calvo, Steven Holland, Stefania Pittaluga, Mihalis S. Lionakis

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.19.

https://doi.org/10.70962/CIS2026abstract.19

Published: 01 May 2026

View article titled, The Role of IFNγ in the Pathogenesis of Good Syndrome

Journal Articles

Expanded Clinical Spectrum Associated with Heterozygous Variants of RNU4ATAC

Lila Yang, Sebastian Ochoa, Nouf Alsaati, Ivan Chinn

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.142.

https://doi.org/10.70962/CIS2026abstract.142

Published: 01 May 2026

View article titled, Expanded Clinical Spectrum Associated with Heterozygous Variants of RNU4ATAC

Journal Articles

PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants

Alexander Vargas-Hernández, Kejian Zhang, Lalith Perera, Michail S. Lionakis, Stefania Pittaluga, Caridad Martinez, Gulbu Uzel, Erin Morales, Josaura Fernandez, Lisa Forbes Satter, Michael B. Jordan, Sebastián Ochoa

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.86.

https://doi.org/10.70962/CIS2026abstract.86

Published: 01 May 2026

View article titled, PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants

Journal Articles

Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.84.

https://doi.org/10.70962/CIS2026abstract.84

Published: 01 May 2026

View article titled, Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience

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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

The Role of IFNγ in the Pathogenesis of Good Syndrome

Expanded Clinical Spectrum Associated with Heterozygous Variants of RNU4ATAC

PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants

Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience

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