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Journal Articles

Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

Paola Suhet, Abigail Lang, Emily Ammon, Zsuzsanna Gaal, Rahim Miller, Marta Toth, Aisha Ahmed, Elisa Ochfeld, Allison Remiker, Robert Liem, Kranthi Nomula, Saugata Goswami, Travis Satnarine, Gary Kleiner, Candance Rypien, Luis M. Favela, Nicola Wright, Ashish Marwaha, Jenny Garkaby, Lauren Gunderman, Lyda Cuervo, Nurcicek Padem, Tyler Yates, Vy Kim, Eyal Grunebaum, Ori Scott, Julia Upton, Oksana Boyarchuk, Melissa Gans, Jolan Walter, Amer Khojah
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.40.
https://doi.org/10.70962/CIS2026abstract.40
Published: 01 May 2026
View article titled, Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias
Includes: Supplementary data
Journal Articles

Co-Segregation of Pyoderma Gangrenosum and a Heterozygous NFKB1 Variant in a Large Kindred: An Autoinflammatory CVID-Like Phenotype

Zsuzsanna Gaal, Paola Suhet, Philip Mendez, Anna Poscher, Marta Toth, Zsolt Czimmerer, Chahine Bassem, Jolan E. Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.134.
https://doi.org/10.70962/CIS2026abstract.134
Published: 01 May 2026
View article titled, Co-Segregation of Pyoderma Gangrenosum and a Heterozygous NFKB1 Variant in a Large Kindred: An Autoinflammatory CVID-Like Phenotype
Journal Articles

Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG

Kellie Larsen, David Potts, Marta Toth, Joseph Dasso, Michelle Altrich, Maurice O'Gorman, Caleb Cornaby, Kevin Andresen, Manish J. Butte, Timothy Thauland, Brant Ward, Laura Poskitt, Karlla Brigatti, Joelle Williamson Clark, James Verbsky, Svetlana Sharapova, Kristian Csomos, Luigi Notarangelo, Kevin Strauss, Jolan Walter, Paola Suhet
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.199.
https://doi.org/10.70962/CIS2025abstract.199
Published: 25 April 2025
View article titled, Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG
Journal Articles

Delayed Diagnosis in X-Linked Agammaglobulinemia and Its Relationship to the Occurrence of Mutations in the Bruton Tyrosine Kinase Catalytic Domain

Ruth Cajuste, Paola Suhet, Kranthi Nomula, Serena Shaffren, Daryl Gibson, Marta Toth, Panida Sriaroon, Bob Dudas, Attilla Kumanovics, Jolan Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.91.
https://doi.org/10.70962/CIS2025abstract.91
Published: 25 April 2025
View article titled, Delayed Diagnosis in X-Linked Agammaglobulinemia and Its Relationship to the Occurrence of Mutations in the Bruton Tyrosine Kinase Catalytic Domain
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