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Journal Articles

Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for celiac disease

Xin Long, Hemanth Karnati, Wenjing Ying, Mary-Joe Touma, Ioana Smith, Suzanne K. Lewis, Chao Xing, Ezra Burstein, Peter H.R. Green, Michele J. Alkalay, Alexandre Bolze, Xiao-Fei Kong
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260050.
https://doi.org/10.70962/jhi.20260050
Published: 07 September 2026
View article titled, Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for celiac disease
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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

The clinical utility of exome sequencing for risk stratification in celiac disease

Talha Asif, Michele Akalay, Wendy K. Chung, Peter H.R. Green, Xiao-Fei Kong
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260051.
https://doi.org/10.70962/jhi.20260051
Published: 01 September 2026
View article titled, The clinical utility of exome sequencing for risk stratification in celiac disease
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Includes: Supplementary data
Journal Articles

Temporal windowing of recurrent sinusitis improves EHR-based immunodeficiency classification

Aaron T. Chin, Rachel Mester, Veronica Tozzo, Alexis V. Stephens, Lisa A. Bastarache, Bogdan Pasaniuc, Manish J. Butte
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260047.
https://doi.org/10.70962/jhi.20260047
Published: 31 August 2026
View article titled, Temporal windowing of recurrent sinusitis improves EHR-based immunodeficiency classification
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Includes: Supplementary data
Journal Articles

Ureaplasma parvum septic arthritis in LRBA deficiency: An infectious mimic of autoimmune arthritis

Katrien Timmermans, Ciel De Vriendt, Stien Vandendriessche, Lore Pottie, Lisa Roels, Simon J. Tavernier, Filomeen Haerynck, Steven Callens, Leslie Naesens
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (6): e20260082.
https://doi.org/10.70962/jhi.20260082
Published: 28 August 2026
View article titled, Ureaplasma parvum septic arthritis in LRBA deficiency: An infectious mimic of autoimmune arthritis
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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

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

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

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Lena E. Winestone, Brent R. Logan, Xuerong Liu, Olatundun Williams, Elizabeth A. Dunn, Monica S. Thakar, Sharon A. Kidd, Talal Mousallem, Morna J. Dorsey, Richard J. O’Reilly, Neena Kapoor, Lisa Forbes Satter, Malika Kapadia, Soma C. Jyonouchi, Sharat Chandra, Christen L. Ebens, Deepakbabu Chellapandian, Sonali Chaudhury, Karin Chen, Blachy J. Dávila Saldaña, Ahmad Rayes, Troy C. Quigg, Shanmuganathan Chandrakasan, Jeffrey J. Bednarski, Kenneth B. DeSantes, Pierre Teira, Alfred P. Gillio, Hesham Eissa, Alan P. Knutsen, Victor M. Aquino, Evan B. Shereck, Theodore B. Moore, Emi H. Caywood, Mark T. Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C. Yu, Ami J. Shah, Avni Y. Joshi, Rebecca H. Buckley, Jasmeen Dara, Joseph H. Oved, Hisham Abdel Azim, Caridad A. Martinez, Susan Prockop, Kathleen E. Sullivan, Jack J. Bleesing, Michael D. Keller, Lisa M. Madden, Suhag Parikh, Shalini Shenoy, Christine M. Seroogy, Tamar Rubin, Jennifer Licata, Jeffrey R. Andolina, Donald B. Kohn, Lauri Burroughs, Jennifer W. Leiding, Rebecca A. Marsh, Luigi D. Notarangelo, Sung-Yun Pai, Troy R. Torgerson, Michael A. Pulsipher, Jennifer Heimall, Geoffrey D.E. Cuvelier, Linda M. Griffith, Jennifer M. Puck, Christopher C. Dvorak, Morton J. Cowan, Elie Haddad
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250231.
https://doi.org/10.70962/jhi.20250231
Published: 07 July 2026
View article titled, Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report
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Includes: Supplementary data
Journal Articles

Functional studies in a neonate with a DOCK11 VUS guide clinical care

Patrick O’Connell, Conor Gruber, Sofija Buta-Panov, Jaya Ganesh, NY-ROYAL Consortium, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20260053.
https://doi.org/10.70962/jhi.20260053
Published: 30 June 2026
View article titled, Functional studies in a neonate with a DOCK11 VUS guide clinical care
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Includes: Supplementary data
Journal Articles

A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

Mehmet Cihangir Catak, Salim Can, Satanay Hubrack, Feyza Bayram Catak, Asha Elmi, Royala Babayeva, Razin Amirov, Melek Yorgun Altunbas, Sevgi Bilgic Eltan, Deniz Ertem, Baris Yilmaz, Ahmet Koc, Batu Erman, Emine Bozkurtlar, Elif Karakoc-Aydiner, Ahmet Ozen, Bernice Lo, Safa Baris
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250227.
https://doi.org/10.70962/jhi.20250227
Published: 09 June 2026
View article titled, A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation
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Includes: Supplementary data
Journal Articles

Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3

Ahmad Rayes, Akshaya Ramachandran, Michael A. Pulsipher, J. Gregory Dolan, Soohee Cho, Amanda K. Johnson, Jessie L. Alexander, Simon Borna, Rosa Bacchetta
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250249.
https://doi.org/10.70962/jhi.20250249
Published: 27 March 2026
View article titled, Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3
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Includes: Supplementary data
Journal Articles

Except the unexpected: A TIPIC syndrome in a child with IPEX

Vincent Fréret, Klervie Loiselet, Benjamin Terrier, Marie-Louise Frémond, Bénédicte Neven, Agathe Escudier
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250246.
https://doi.org/10.70962/jhi.20250246
Published: 25 March 2026
View article titled, Except the unexpected: A TIPIC syndrome in a child with IPEX
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Journal Articles

From variants to answers: The evolution of genetic counseling in IEI

Blanca García-Solís, Rebeca Pérez de Diego, Silvia Sánchez-Ramón
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250211.
https://doi.org/10.70962/jhi.20250211
Published: 20 March 2026
View article titled, From variants to answers: The evolution of genetic counseling in IEI
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Journal Articles

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Annelotte J. Duintjer, Robbert G.M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Mariëlle E. van Gijn, Stefanie S. Henriet, Evelien A. Kemper, Taco W. Kuijpers, G. Elizabeth Legger, Joris M. van Montfrans, Liesbeth H. Schölvinck, Clementien L. Vermont, Els Voorhoeve, Gert Weijman, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Mirjam van der Burg, Maartje Blom
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250205.
https://doi.org/10.70962/jhi.20250205
Published: 05 February 2026
View article titled, Managing non-SCID T cell lymphopenia after TREC-based newborn screening
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Includes: Supplementary data
Journal Articles

Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C

Liliane Khoryati, Signe Bech Sørensen, Christophe Parizot, Raphaëlle Lautraite, Marc Pineton de Chambrun, MIS-A & COVID-19 Taskforce, Guy Gorochov, Trine H. Mogensen, Alexandre Belot
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250050.
https://doi.org/10.70962/jhi.20250050
Published: 08 January 2026
View article titled, Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C
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Includes: Supplementary data
Journal Articles

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P.A. Henderson, Anne Pham-Huy
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250102.
https://doi.org/10.70962/jhi.20250102
Published: 10 November 2025
View article titled, Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
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Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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Journal Articles

A heterozygous USB1 variant linked to immunodeficiency

Alice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, Sara Mercurio, Margot Tragin, Nicolas Goudin, Mélanie Parisot, Monica Beltrame, Despina Moshous, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250110.
https://doi.org/10.70962/jhi.20250110
Published: 22 October 2025
View article titled, A heterozygous USB1 variant linked to immunodeficiency
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Includes: Supplementary data
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