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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

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients

Julian Rojas, Carlos A. Arango-Franco, Marcela Moncada-Velez, Diana Marcela Arboleda, Edgar Alfonso Figueredo, Manuela Molina, Juan Pablo Sánchez, Lina Marcela Zapata, Paula Catalina Diaz, Jesús Armando Álvarez, Maria S. Serna-Arbelaez, Lizet Jazmin Pérez Zapata, Gabriel Vélez, Camille Soudée, Juan F. Alzate, Felipe Cabarcas, Catalina Obando Gil, Carlos Garcés, Martha I. Alvarez-Olmos, Paola Marcela Pérez-Camacho, Diego Medina-Valencia, Jaime Alberto Patiño-Niño, Juan Pablo Rendón, María Claudia Ortega-López, Luz Elena Cano, Juan Francisco López, Flor Marcela Estupiñán, Mauricio Chaparro, Laura Niño, Andrés Felipe Escobar, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Anne Puel, Carlos Olmos, Luis Miguel Sosa, Patrick Eliana Sarmiento-Wilches, César Muñoz, Julio Cesar Orrego, Juan Álvaro López, Manuela Olaya-Hernández, Natalia Builes, Estefanía Vásquez-Echeverri, Natalia Vélez-Tirado, José Luis Franco, Lina María Castaño-Jaramillo, Jacinta Bustamante, Andrés Augusto Arias

J Hum Immun (2026) 2 (4): e20250257.

https://doi.org/10.70962/jhi.20250257

Published: 21 May 2026

View article titled, Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients

Journal Articles

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

J Hum Immun (2026) 2 (2): e20250073.

https://doi.org/10.70962/jhi.20250073

Published: 30 January 2026

View article titled, Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

Includes: Supplementary data

Journal Articles

IRF4 haploinsufficiency in a multiplex family with Whipple’s disease

Sinem Ünal, Stéphanie Dublanc, Hailun Li, Jean-Philippe Vernhes, Vincent Meynier, Camille Soudée, Whipple’s consortium, Vivien Béziat, Guillaume Vogt, Xavier Puéchal, Jean-Laurent Casanova, Jacinta Bustamante, Jérémie Rosain

J Hum Immun (2025) 2 (1): e20250009.

https://doi.org/10.70962/jhi.20250009

Published: 11 November 2025

View article titled, IRF4 haploinsufficiency in a multiplex family with Whipple’s disease

Includes: Supplementary data

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

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

IRF4 haploinsufficiency in a multiplex family with Whipple’s disease

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

Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

IRF4 haploinsufficiency in a multiplex family with Whipple’s disease

Email alerts

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