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Journal Articles

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype

Philipp Peters, Johanna Schepp, Michael H. Albert, Horst von Bernuth, Norbert Blank, Jürgen Brunner, Gregor Dückers, Lisa Ehlers, Susan Farmand, Dirk Föll, Elisabeth Förster-Waldl, Janina Gburek-Augustat, Sujal Ghosh, Lisa Göschl, Marc Hömberg, Manfred Hönig, Tilmann Kallinich, Christian Klemann, Leah Klingel, Udo Kontny, Lisa-Maria Kuhn, Peter Lamprecht, Kai Lehmberg, Almut Meyer-Bahlburg, Ingo Müller, Michaela Nathrath, Tim Niehues, Prasad T. Oommen, Jana Pachlopnik Schmid, Seraina Prader, Alexander Puzik, Raffaele Renella, Ansgar Schulz, Andrea Skrabl-Baumgartner, Sven Starke, Teresa K. Tarrant, Michael Hershfield, Bodo Grimbacher, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250108.
https://doi.org/10.70962/jhi.20250108
Published: 16 June 2026
View article titled, ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype
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Includes: Supplementary data
Journal Articles

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
Journal: Journal of Human Immunity
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
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Includes: Supplementary data
Journal Articles

How I Treat: Haploinsufficiency of A20

Jonathan Li, Jeffrey Y. Zhou, Manuel Carpio Tumba, Tingyan He, Kader Cetin Gedik, Daniella M. Schwartz
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250138.
https://doi.org/10.70962/jhi.20250138
Published: 04 May 2026
View article titled, How I Treat: Haploinsufficiency of A20
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Includes: Supplementary data
Journal Articles

Not getting the nod: The case against Yao syndrome

Paul E. Gray, Seth L. Masters, Edwin P. Kirk
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250224.
https://doi.org/10.70962/jhi.20250224
Published: 03 April 2026
View article titled, Not getting the nod: The case against Yao syndrome
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Journal Articles

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

Yemsratch Akalu, Justin Taft, Thomas Berger, Kevin Rostásy, Hormos S. Dafsari, Helena Schönrade, Müşerref Kasap Cüceoğlu, Seza Özen, Albert Faye, Isabelle Melki, Imen Dobroz, Odile Boespflug-Tanguy, Ayça Kiykim, Sezgin Sahin, Eda Tahir Turanli, Ümmüşen Kaya Akca, Jan A.M. van Laar, Philomine A. van Pelt, Iris H.I.M. Hollink, Pallavi Pimpale Chavan, Raju Khubchandani, Ivona Aksentijevich, Dusan Bogunovic
Journal: Journal of Human Immunity
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
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Journal Articles

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

Sarah Cook, Kranthi Nomula, Claire E. Cross, Hwi M. Gil, Joseph M. Choi, Saara Kaviany, James A. Connelly, Christopher C. Chang, Janet G. Markle
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250201.
https://doi.org/10.70962/jhi.20250201
Published: 23 January 2026
View article titled, Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin
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Includes: Supplementary data
Journal Articles

IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF

Hsi-en Ho, Lin Radigan, Eric Meffre, Charlotte Cunningham-Rundles
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250080.
https://doi.org/10.70962/jhi.20250080
Published: 13 January 2026
View article titled, IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF
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Journal Articles

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition

Nima Parvaneh, Hossein Karami, Leila Shahbaznejad, Zahra Rezaei, Parastoo Rostami, Mohammad Shahrooei, Vahid Ziaee
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250196.
https://doi.org/10.70962/jhi.20250196
Published: 06 January 2026
View article titled, TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition
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Journal Articles

Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)

Ahmet Eken, Sara Johnson, Serife Erdem, Elena W.Y. Hsieh
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250045.
https://doi.org/10.70962/jhi.20250045
Published: 10 September 2025
View article titled, Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI)
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Journal Articles

Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management

Joshua M. Tobin, Megan A. Cooper
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250034.
https://doi.org/10.70962/jhi.20250034
Published: 23 July 2025
View article titled, Rheumatologic and autoimmune features of inborn errors of immunity: Implications for diagnosis and management
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Journal Articles

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy

Callie C.Y. Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Marie-Louise Frémond, Yanick J. Crow
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250035.
https://doi.org/10.70962/jhi.20250035
Published: 04 June 2025
View article titled, Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
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Includes: Supplementary data
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