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Journal Articles

A 5-Year-Old Female with Neutropenia and Compound Heterozygous Variants in CXCR2

Sanchita Raychaudhuri, Zachary Ormiston, Sergio Pontejo, David McDermott, Philip Murphy, Daniel DiGiacomo

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.21.

https://doi.org/10.70962/CIS2026abstract.21

Published: 01 May 2026

View article titled, A 5-Year-Old Female with Neutropenia and Compound Heterozygous Variants in CXCR2

Journal Articles

A Copy Number Gain in NFKB2 in a Patient with Immune Dysregulation

Jordana Gross, Daniel DiGiacomo, Barrie Cohen

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.258.

https://doi.org/10.70962/CIS2025abstract.258

Published: 25 April 2025

View article titled, A Copy Number Gain in NFKB2 in a Patient with Immune Dysregulation

Journal Articles

A Three-Year-Old Male with an Intronic BTK Variant of Uncertain Significance

Rohan Charles, Daniel DiGiacomo

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.88.

https://doi.org/10.70962/CIS2025abstract.88

Published: 25 April 2025

View article titled, A Three-Year-Old Male with an Intronic BTK Variant of Uncertain Significance

Journal Articles

Defining an Activated PI3K-delta Syndrome-like Endotype Within Broader Common Variable Immunodeficiency

Daniel DiGiacomo, Sara Barmettler, Paul Maglione, Aditi Jogdand, Joseph Hong, Rebecca Marsh, Kevin Thorneloe, Karen Gilbert, Mei-Sing Ong, Jocelyn Farmer

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.36.

https://doi.org/10.70962/CIS2025abstract.36

Published: 25 April 2025

View article titled, Defining an Activated PI3K-delta Syndrome-like Endotype Within Broader Common Variable Immunodeficiency