Inborn errors of immunity
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Journal Articles

Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy

Jenny A. Patel, Nermina Saucier, Hwi M. Gil, Elizabeth G. Schmitz, Marianna B. Ruzinova, Ayah Saffaf, Morey Blinder, Neha Mehta-Shah, Zachary D. Crees, Megan A. Cooper, Ofer Zimmerman
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260113.
https://doi.org/10.70962/jhi.20260113
Published: 24 September 2026
View article titled, Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy
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Journal Articles

A fatal case of Aspergillus endocarditis in a pediatric patient with STING-associated vasculopathy

Ambre Dethier, Fanny Bajolle, Paul Bastard, Laureline Berteloot, Romain Lévy, Filippo Consonni, Quentin Deletang, Eric Dannaoui, Olivier Raisky, Philippe Drabent, Jacinta Bustamante, Fréderic Rieux-Laucat, Anne Puel, Fanny Lanternier, Marie-Louise Frémond, Bénédicte Neven
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20250262.
https://doi.org/10.70962/jhi.20250262
Published: 22 September 2026
View article titled, A fatal case of Aspergillus endocarditis in a pediatric patient with STING-associated vasculopathy
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Journal Articles

High prevalence of autoantibodies neutralizing type I IFNs in Japanese patients with hepatitis C

Maki Taniguchi, Chiaki Tao, Takaki Asano, Miyuki Tsumura, Ko Ko, Hiroko Kumada, Takanori Utsumi, Kosuke Noma, Fumiaki Sakura, Kosuke Ashihara, Moe Tamaura, Yoko Mizoguchi, Osamu Ohara, Dusan Bogunovic, Paul Bastard, Jean-Laurent Casanova, Junko Tanaka, Masataka Tsuge, Kazuaki Chayama, Shiro Oka, Satoshi Okada
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20250239.
https://doi.org/10.70962/jhi.20250239
Published: 16 September 2026
View article titled, High prevalence of autoantibodies neutralizing type I IFNs in Japanese patients with hepatitis C
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Includes: Supplementary data
Journal Articles

ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling

Aida Idani, Sabrina Bibi-Triki, Tristan Stemmelen, Mirjana Radosavljevic, Pierre Grenot, Aurélie Hirschler, Alice Bernard, Michelle Rosenzwajg, Jianying Yang, Alice Eischen, Lydie Naegely, Cécile Macquin, Angélique Pichot, Perrine Spinnhirny, Antoine Hanauer, Nasrin Alipour-Olayei, Thomas Cherrier, Aline Kolmer, Nicodème Paul, Rory J. Olson, Eva Morava, Zhichao Miao, Christine Carapito, Parastoo Rostami, Nima Parvaneh, Mohammad Shahrooei, Anne Molitor, Raphael Carapito, Seiamak Bahram
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20250234.
https://doi.org/10.70962/jhi.20250234
Published: 07 September 2026
View article titled, ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling
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Includes: Supplementary data
Journal Articles

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency

Renuka Kadirkamanathan, Roland Preece, Lisa Woodbine, Elena Korneeva, Arina Lazareva, Winnie Ip, Waseem Qasim
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260068.
https://doi.org/10.70962/jhi.20260068
Published: 03 September 2026
View article titled, Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency
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Includes: Supplementary data
Journal Articles

Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation

Paul J. Baker, Yaoyuan Zhang, Imogen Bishop, Madeline L. Cleveland, Alexandra L. McAllan, Georgina E. Hollway, Ravikiran Vedururu, Amit Kumar, Raj Krishnaswamy, Ken L. Wan, Peter A. Kaub, Emma L. Brown, Dhanya Lakshmi Narayanan, Ira W. Deveson, CIRCA, AADRY, Peter Gowdie, William D. Renton, Samar Ojaimi, Andrew P. Fennell, Seth L. Masters
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260044.
https://doi.org/10.70962/jhi.20260044
Published: 26 August 2026
View article titled, Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation
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Includes: Supplementary data
Journal Articles

STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection

Kavitha Thiagarajan, Huan Vinh Dong, Caroline Y. Kuo, Timothy J. Thauland, Sheeja Pullarkat, Manish J. Butte, Maria I. Garcia-Lloret, Karin Nielsen-Saines
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20250139.
https://doi.org/10.70962/jhi.20250139
Published: 25 August 2026
View article titled, STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection
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Journal Articles

Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy

Anne Puel, Jean-Laurent Casanova, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260115.
https://doi.org/10.70962/jhi.20260115
Published: 19 August 2026
View article titled, Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy
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Journal Articles

STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights

Bouchra Baghad, Ibtihal Benhsaien, Fatima-zahra El Fatoiki, Hind Ouair, Abderrahmane Moundir, Abderrahmane Errami, Maha Soussi-Abdellaoui, Mélanie Migaud, Jean-Laurent Casanova, Anne Puel, Jalila El Bakkouri, Ahmed Aziz Bousfiha, Soumiya Chiheb, Fatima Ailal
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250021.
https://doi.org/10.70962/jhi.20250021
Published: 19 August 2026
View article titled, STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights
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Journal Articles

Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan

Tsubasa Nishinosono, Hideki Muramatsu, Manabu Wakamatsu, Nobuyuki Ishige, Junji Hanai, Takahiro Imaizumi, Masahiro Ueki, Yoji Sasahara, Toshinao Kawai, Yoji Uejima, Takahiro Yasumi, Satoshi Okada, Mariko Eguchi, Masataka Ishimura, Tomoyuki Mizukami, Masafumi Yamada, Hidenori Ohnishi, Go Tajima, Kohsuke Imai, Newborn Screening Working Group, Japanese Society for Immunodeficiency and Autoinflammatory Diseases
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260083.
https://doi.org/10.70962/jhi.20260083
Published: 17 August 2026
View article titled, Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan
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Includes: Supplementary data
Journal Articles

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

Hiroyuki Baba, Tadashi Hosoya, Taiki Yamaguchi, Takuji Itakura, Hirokazu Sasaki, Natsuka Umezawa, Tetsuya Saito, Naoki Kimura, Ryuji Koike, Masayuki Yoshida, Masaki Shimizu, Hirokazu Kanegane, Shinsuke Yasuda
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250218.
https://doi.org/10.70962/jhi.20250218
Published: 10 August 2026
View article titled, Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features
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Includes: Supplementary data
Journal Articles

TCR γδ cell–specific STAT5 gain of function induces a druggable chronic human immune dysregulation

Benedikt J. Meyer, José Pedro Loureiro, Vladimir Nosi, Robin Hupfer, Adhideb Ghosh, Fabio Poletti, Annaïse Jauch, Julia Hirsiger, Caroline Berkemeier, Ingmar Heijnen, Jan Dirks, Ilaria Alborelli, Thomas Menter, Alexandar Tzankov, Christoph Hess, Alexander A. Navarini, Christoph T. Berger, Lucia Mori, Gennaro De Libero, Mike Recher
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250175.
https://doi.org/10.70962/jhi.20250175
Published: 10 August 2026
View article titled, TCR γδ cell–specific STAT5 gain of function induces a druggable chronic human immune dysregulation
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Includes: Supplementary data
Journal Articles

Adenosine deaminase type 2 deficiency: From rare to common

Marjon Wouters, Verena Kienapfel, Lisa Ehlers, Hasan Hashem, Ivona Aksentijevich, Isabelle Meyts
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260015.
https://doi.org/10.70962/jhi.20260015
Published: 03 August 2026
View article titled, Adenosine deaminase type 2 deficiency: From rare to common
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Journal Articles

Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature

Elsa Lamah, Nouf Mohammed Althubaiti, Youmna El-Orfali, Hagop Mardirossian, Habib Alkalamouni, Abdulrahman N. Aljaber, Musaab Alhezam, Nader G. Zalaquett, Rana Mansour, Rima Hanna-Wakim, Fayhan Alroqi, Michel J. Massaad
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250254.
https://doi.org/10.70962/jhi.20250254
Published: 03 August 2026
View article titled, Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature
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Includes: Supplementary data
Journal Articles

A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion

Giuliana Giardino, Roberta Romano, Gabriella Maria Squeo, Elisabetta Toriello, Antonio De Rosa, Antonio Ammendola, Giorgia Gemma, Jessica Rzasa, Jen Kerkhof, Eleonora di Venere, Mariateresa Cantelli, Emilia Cirillo, Vincenzo Nigro, Bekim Sadikovic, Claudio Pignata, Giuseppe Merla
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250204.
https://doi.org/10.70962/jhi.20250204
Published: 30 July 2026
View article titled, A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion
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Journal Articles

Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

Johannes Raedler, Florian Gothe, Thomas Magg, Philipp Peters, Karen Helene Bronken Martinsen, Ursula Holzer, Ayca Kiykim, Ayse Kalyoncu Ucar, Roshini S. Abraham, Hemalatha G. Rangarajan, Adeeb NaserEddin, Polina Stepensky, Irina Zaidman, Ehud Even-Or, Joern-Sven Kuehl, Daniel Graefe, Venetia Bigley, Christo Tsilifis, Anders Fasth, Nizar Mahlaoui, Oliver Wegehaupt, Carsten Speckmann, Jean-Laurent Casanova, Christoph Klein, Bénédicte Neven, Vivien Béziat, Romain Lévy, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250200.
https://doi.org/10.70962/jhi.20250200
Published: 29 July 2026
View article titled, Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency
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Includes: Supplementary data
Journal Articles

FOXP3 deep intronic variant underlying IPEX

Pierre Gaufryau, Marie-Claude Stolzenberg, Nathalie Lambert, Philipp Peters, Iben El Missaoui, Najiba Alioua, Sylvain Hanein, Mohamed Hamici, Patrick Nitschké, Peng Zhang, Jacinta Bustamante, Bénédicte Neven, Capucine Picard, Frédéric Rieux-Laucat, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260021.
https://doi.org/10.70962/jhi.20260021
Published: 29 July 2026
View article titled, FOXP3 deep intronic variant underlying IPEX
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Journal Articles

Tailored conditioning for hematopoietic stem cell transplantation in children with Mendelian susceptibility to mycobacterial disease: A tale of two pathways for IFN-γ and IL-12 defects

Kavitha Ganesan, Minakshi Balwani, Nithya Seshadri, Vijayashree Muthukumar, Krithika Krishnakumar, Anuraag Nalla Reddy, Vidya Krishna, Indira Jayakumar, Ramya Uppuluri, Revathi Raj
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250264.
https://doi.org/10.70962/jhi.20250264
Published: 27 July 2026
View article titled, Tailored conditioning for hematopoietic stem cell transplantation in children with Mendelian susceptibility to mycobacterial disease: A tale of two pathways for IFN-γ and IL-12 defects
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Journal Articles

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients

Antonios Gkantaras, ESID Registry Working Party, Markus G. Seidel
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260091.
https://doi.org/10.70962/jhi.20260091
Published: 23 July 2026
View article titled, Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients
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Includes: Supplementary data
Journal Articles

A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID

Hannah Shin, Lori Broderick, Jessica Azevedo, Caitlin Mulligan, Kari Hird, Vanessa Goodwill, Courtney Parkin, Stephanie Mortensen, Madisen Traveller, Ahmad Rayes, John Bohnsack, Donald B. Kohn, Teresa K. Tarrant, Michael Hershfield, Jonathan J. Lyons
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250093.
https://doi.org/10.70962/jhi.20250093
Published: 21 July 2026
View article titled, A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID
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