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Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

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

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Sarah Cook, Kranthi Nomula, Claire E. Cross, Hwi M. Gil, Joseph M. Choi, Saara Kaviany, James A. Connelly, Christopher C. Chang, Janet G. Markle

J Hum Immun (2026) 2 (2): e20250201.

https://doi.org/10.70962/jhi.20250201

Published: 23 January 2026

View article titled, Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Includes: Supplementary data

Journal Articles

A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course

Serena Shaffren, Phil Mendez, David Potts, Monica Hajirawala, Panida Sriaroon, Constance Bindernagel, Kranthi Nomula, Svetlana Sharapova, John Sleasman, Jolan Walter

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.137.

https://doi.org/10.70962/CIS2025abstract.137

Published: 25 April 2025

View article titled, A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course

Journal Articles

Dual Heterozygous LRBA Variants in an Adult with Combined Immunodeficiency: A Diagnostic Challenge

Kranthi Nomula, Ariane Rice, Shannon Sotoudeh, Rahim Miller, David Potts, Daryl Gibson, Jolan Walter

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.174.

https://doi.org/10.70962/CIS2025abstract.174

Published: 25 April 2025

View article titled, Dual Heterozygous LRBA Variants in an Adult with Combined Immunodeficiency: A Diagnostic Challenge

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

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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Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course

Dual Heterozygous LRBA Variants in an Adult with Combined Immunodeficiency: A Diagnostic Challenge

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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