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STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy

Nima Parvaneh, Rasol Molatefi, Conor Gruber, Sajjad Biglari, Leila Moradi, Yoann Seeleuthner, Fatima Ailal, Ahmed Aziz Bousfiha, Neda Pak, Camille Soudée, Jean-Laurent Casanova, Jérémie Rosain, Dusan Bogunovic, Mohammad Reza Fazlollahi, Mohammad Shahrooei, Jacinta Bustamante

J Hum Immun (2026) 2 (4): e20260001.

https://doi.org/10.70962/jhi.20260001

Published: 27 May 2026

View article titled, STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy

Includes: Supplementary data

Journal Articles

When Recurrent Infections Don’t Always Reveal a Primary Immunodeficiency

Doha Benchaji, Islam Mansouri, Zahra Aadam, Siham Satlane, Ikbal Belkhou, Ibtihal Benhsaien, Fatima Ailal, Fatima Adnane, Ahmed Aziz Bousfiha, Naima Amenzoui

J Hum Immun (2025) 1 (ASID2025): eASID2025abstract.16.

https://doi.org/10.70962/ASID2025abstract.16

Published: 22 August 2025

View article titled, When Recurrent Infections Don’t Always Reveal a Primary Immunodeficiency

Journal Articles

Defects in Innate and Intrinsic Immunity in Morocco: Genetic Variants and Their Clinical Impact

Marwa Refaat, Khaoula Oussama, Mohamed Bousfiha, Halima Kholaiq, Abderrahmane Errami, Amenzoui Naima, Ibtihal Benhsaien, Fatima Ailal, Jalila El Bakkouri, Ahmed Aziz Bousfiha

J Hum Immun (2025) 1 (ARAPID2025): eARAPID2025abstract.25.

https://doi.org/10.70962/ARAPID2025abstract.25

Published: 04 June 2025

View article titled, Defects in Innate and Intrinsic Immunity in Morocco: Genetic Variants and Their Clinical Impact

Journal Articles

ZNF341-Related Autosomal Recessive Hyper-IgE Syndrome: A Case Series of Four Patients

Rania Lasry, Ibtihal Benhsain, Zahra Aadam, Ahmed Aziz Bousfiha, Fatima Ailal

J Hum Immun (2025) 1 (ARAPID2025): eARAPID2025abstract.26.

https://doi.org/10.70962/ARAPID2025abstract.26

Published: 04 June 2025

View article titled, ZNF341-Related Autosomal Recessive Hyper-IgE Syndrome: A Case Series of Four Patients

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STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy

When Recurrent Infections Don’t Always Reveal a Primary Immunodeficiency

Defects in Innate and Intrinsic Immunity in Morocco: Genetic Variants and Their Clinical Impact

ZNF341-Related Autosomal Recessive Hyper-IgE Syndrome: A Case Series of Four Patients

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STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy

When Recurrent Infections Don’t Always Reveal a Primary Immunodeficiency

Defects in Innate and Intrinsic Immunity in Morocco: Genetic Variants and Their Clinical Impact

ZNF341-Related Autosomal Recessive Hyper-IgE Syndrome: A Case Series of Four Patients

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