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Exploration of Clusters of Rare Disease: ARPC1B Deficiency with Founder Effect in Nepal

Dharmagat Bhattarai, Aaqib Zaffar Banday, Pratap Kumar Patra, Ramji Baral, Krisztian Csomos, Joseph Dasso, Jolan E. Walter

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.56.

https://doi.org/10.70962/CIS2026abstract.56

Published: 01 May 2026

View article titled, Exploration of Clusters of Rare Disease: ARPC1B Deficiency with Founder Effect in Nepal

Journal Articles

Expanded Phenotype, Outcome, and New Insights from the Largest Single-Country Cohort of ARPC1B Deficiency

Dharmagat Bhattarai, Aaqib Zaffar Banday, Pratap Kumar Patra, Ramji Baral

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.55.

https://doi.org/10.70962/CIS2026abstract.55

Published: 01 May 2026

View article titled, Expanded Phenotype, Outcome, and New Insights from the Largest Single-Country Cohort of ARPC1B Deficiency

Journal Articles

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset

Tahereh Noori, Anit Kaur, Altaf Hussain Kambay, Aaqib Zaffar Banday, Ilia Voskoboinik

J Hum Immun (2025) 1 (4): e20250100.

https://doi.org/10.70962/jhi.20250100

Published: 07 October 2025

View article titled, Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset

Includes: Supplementary data