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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

How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome

Hirokazu Kanegane, Dan Tomomasa, Satoshi Okada
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260054.
https://doi.org/10.70962/jhi.20260054
Published: 27 July 2026
View article titled, How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome
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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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Journal Articles

Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges

Stephen Jolles, Cecilia Poli, Nicholas L. Rider, Gabriela Negritu, Til Rendschmidt, Antonio Condino-Neto
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260028.
https://doi.org/10.70962/jhi.20260028
Published: 16 July 2026
View article titled, Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges
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Journal Articles

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

Annelotte J. Duintjer, Maartje Blom, Robbert G.M. Bredius, Ingrid Pico-Knijnenburg, Adinda Heuperman, Hennie Hodemaekers, Sandra Imholz, Martijn E.T. Dollé, Ruben B. Brandsema, Lisette van de Corput, Stefanie S. Henriet, Taco W. Kuijpers, Joris M. van Montfrans, Clementien L. Vermont, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Els Voorhoeve, Mariëlle E. van Gijn, Mirjam van der Burg
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260031.
https://doi.org/10.70962/jhi.20260031
Published: 16 July 2026
View article titled, Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies
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Includes: Supplementary data
Journal Articles

Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome

Melissa Gans, Juanita Valdes Camacho, Matthew Wyke, Kasama Manothummetha, Harry Lesmana, Jacqueline Squire, Joao Pedro Lopes, Erica G. Schmitt, Hanadys Ale, Junghee J. Shin, Natalia Chaimowitz, Carolyn Baloh, Dusan Bogunovic, Joaquin Espinosa
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260052.
https://doi.org/10.70962/jhi.20260052
Published: 15 July 2026
View article titled, Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome
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Journal Articles

Autologous Ex Vivo Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency-I Achieves Durable Immune Reconstitution and Reduction of Infection-Related Morbidity: Updated 3.5-5.5-Year Results from a Phase I/II Study

C. Booth, J. Sevilla, E. Almarza, C.Y. Kuo, M. Chitty-Lopez, S. Manganaro, H. Ouyang, B. Narayanan, A. Fernandes, S. De Oliveira, C. Banuelos, J. Xu-Bayford, P. John-Neek, C. Jackson, T.B. Moore, K. Gilmour, A. Schambach, M. Rothe, A.J. Thrasher, J.A. Bueren, J.D. Schwartz, D.B. Kohn
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.2.
https://doi.org/10.70962/PIDTC2026abstract.2
Published: 14 July 2026
View article titled, Autologous Ex Vivo Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency-I Achieves Durable Immune Reconstitution and Reduction of Infection-Related Morbidity: Updated 3.5-5.5-Year Results from a Phase I/II Study
Journal Articles

Relevance of a Computational Deep-Dive to Characterize the Molecular Biology of a Novel Cd40l Variant

Jahnavi Aluri, Amrita Basu, Hema G. Rangarajan, Roshini S. Abraham
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.18.
https://doi.org/10.70962/PIDTC2026abstract.18
Published: 14 July 2026
View article titled, Relevance of a Computational Deep-Dive to Characterize the Molecular Biology of a Novel Cd40l Variant
Journal Articles

Implementing a First-in-Human Clinical Trial of Prime-Editing Gene Therapy in p47-CGD: Clinical Data and Site Perspectives

K. Leveille, J.L. Gori, S. Turvey, C. Martin, I. Fernandez, F. Touzot, P. Teira, M. Asmal, H. Frangoul, M. Pierzynski, H.L. Malech, E. Haddad
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.3.
https://doi.org/10.70962/PIDTC2026abstract.3
Published: 14 July 2026
View article titled, Implementing a First-in-Human Clinical Trial of Prime-Editing Gene Therapy in p47-CGD: Clinical Data and Site Perspectives
Journal Articles

Identification of a Shared CD3D Variant Among a Severe Combined Immunodeficiency Cohort of Cabo Verdean Ancestry

Katherine Michaelis, MD, PhD, Sung-Yun Pai, MD, Craig Platt, MD, PhD, Malika Kapadia, MD, Luigi Notarangelo, MD, Susan Prockop, MD
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.12.
https://doi.org/10.70962/PIDTC2026abstract.12
Published: 14 July 2026
View article titled, Identification of a Shared CD3D Variant Among a Severe Combined Immunodeficiency Cohort of Cabo Verdean Ancestry
Journal Articles

Base Editing Hematopoietic Stem/Progenitor Cell Gene Therapy for Treatment of X-Linked Severe Combined Immunodeficiency

Suk See De Ravin, Michelle Ma, Yuzhi Yin, Siyuan Liu, Andres Zea Vera, Joanna Peterson, Esther Bandala-Sanchez, Samantha Chan, Elizabeth Kang, Ronald J. Meis, Gary A. Dahl, Xiaolin Wu, Benjamin P. Kleinstiver, Harry L. Malech
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.4.
https://doi.org/10.70962/PIDTC2026abstract.4
Published: 14 July 2026
View article titled, Base Editing Hematopoietic Stem/Progenitor Cell Gene Therapy for Treatment of X-Linked Severe Combined Immunodeficiency
Journal Articles

Interleukin 7 Receptor Alpha-Associated Severe Combined Immunodeficiency: Impact, Clinical Course, and Outcomes Following Hematopoietic Stem Cell Transplantation

Leah Pettiford, FNP-BC, Leigh Hartog, MD, Brant Ward, MD, PhD, Blachy Davila Saldana, MD, Magda Walkiewicz, PhD, Monica Lawrence, MD, Christina Wiedl, MD, Ottavia Delamonte, MD, Luigi Notarangelo, MD, Michael Keller, MD, Elizabeth Hicks, MD
Journal: Journal of Human Immunity
Series: PIDTC Meeting Abstracts 2026
J Hum Immun (2026) 2 (PIDTC2026): ePIDTC2026abstract.10.
https://doi.org/10.70962/PIDTC2026abstract.10
Published: 14 July 2026
View article titled, Interleukin 7 Receptor Alpha-Associated Severe Combined Immunodeficiency: Impact, Clinical Course, and Outcomes Following Hematopoietic Stem Cell Transplantation
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