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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

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

Azzeddine Tahiat, Reda Belbouab, Abdelghani Yagoubi, Sofija Buta Panov, Lorenzo Cuollo, Kamel Djenouhat, Dusan Bogunovic

J Hum Immun (2026) 2 (4): e20260042.

https://doi.org/10.70962/jhi.20260042

Published: 26 May 2026

View article titled, C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

Includes: Supplementary data

Journal Articles

How I Treat: Immune dysregulation in Down syndrome

Melissa Gans, Matthew Wyke, Kayra Somay, Willa Thorson, Dusan Bogunovic

J Hum Immun (2026) 2 (4): e20250161.

https://doi.org/10.70962/jhi.20250161

Published: 04 May 2026

View article titled, How I Treat: Immune dysregulation in Down syndrome

Journal Articles

Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Giuseppe Sangiorgio, Francesca Pala, Kayla Amini, Eduardo Anaya, Sarah Dinges, Ottavia Delmonte, Alexandra Freeman, Alexandra Kreins, E. Graham Davies, Horst von Bernuth, Cathleen Collins, Maria Teresa de la Morena, Melinda M. Rathkopf, Dusan Bogunovic, Marita Bosticardo, Luigi D. Notarangelo

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.8.

https://doi.org/10.70962/CIS2026abstract.8

Published: 01 May 2026

View article titled, Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Journal Articles

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis

J Hum Immun (2026) 2 (3): e20250011.

https://doi.org/10.70962/jhi.20250011

Published: 24 February 2026

View article titled, Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis

Includes: Supplementary data

Journal Articles

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

J Hum Immun (2026) 2 (2): e20250245.

https://doi.org/10.70962/jhi.20250245

Published: 10 February 2026

View article titled, Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Journal Articles

Markers of immune dysregulation in pediatric patients with severe bronchiolitis

Katherine Hickey, Conor Gruber, Sofija Buta-Panov, Jo Hsuan Lee, Guillaume Stoffels, Sandeep Gangadharan, Alfin Vicencio, Dusan Bogunovic

J Hum Immun (2025) 2 (2): e20250133.

https://doi.org/10.70962/jhi.20250133

Published: 26 December 2025

View article titled, Markers of immune dysregulation in pediatric patients with severe bronchiolitis

Journal Articles

Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel

Dusan Bogunovic

J Hum Immun (2025) 1 (4): e20250064.

https://doi.org/10.70962/jhi.20250064

Published: 18 August 2025

View article titled, Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel

Journal Articles

Trisomy 21 Promotes an Inflammatory Hyperresponsiveness in the Brain and Modulates Transcriptional Regulation in a Cell Type–Specific Manner

Michelle Adler, Denise Jurczyszak, Dusan Bogunovic

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.50.

https://doi.org/10.70962/CIS2025abstract.50

Published: 25 April 2025

View article titled, Trisomy 21 Promotes an Inflammatory Hyperresponsiveness in the Brain and Modulates Transcriptional Regulation in a Cell Type–Specific Manner

Journal Articles

Massively Scalable Generation, Discovery, and Clinical (Re)Classification of Inborn Errors of Immunity Using Cutting-Edge Genome Engineering

Zachary Walsh, Chris Frangieh, Clarissa Heck, Sarah Grauman, Jared Pollard, Akul Naik, Lei haley Huang, Ashley Lee, Dusan Bogunovic, Joshua Milner, Benjamin Izar

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.115.

https://doi.org/10.70962/CIS2025abstract.115

Published: 25 April 2025

View article titled, Massively Scalable Generation, Discovery, and Clinical (Re)Classification of Inborn Errors of Immunity Using Cutting-Edge Genome Engineering

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

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

How I Treat: Immune dysregulation in Down syndrome

Derivation of Mesenchymal Stem Cells from Induced Pluripotent Stem Cells and Their Application in Genetic Disease Modeling

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

Markers of immune dysregulation in pediatric patients with severe bronchiolitis

Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel

Trisomy 21 Promotes an Inflammatory Hyperresponsiveness in the Brain and Modulates Transcriptional Regulation in a Cell Type–Specific Manner

Massively Scalable Generation, Discovery, and Clinical (Re)Classification of Inborn Errors of Immunity Using Cutting-Edge Genome Engineering

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