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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

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

Giulia Prunotto, Marie Parreillet, Bénédicte Neven, Despina Moshous, Genevieve de Saint Basile, Caroline Lindemans, Timothy Ronan Leahy, Elie Haddad, Herbert Pichler, Joao Farela Neves, Mary Slatter, Nasrine Radwan, Carsten Speckmann, Christos Tzivinikos, Edward J. Hoffenberg, Chee Y. Ooi, Alberto Pinzon-Charry, Looi C. Ee, Silvia Ricci, Michael H. Albert, Jonathan O’Donnell, Austen Worth, Holm H. Uhlig, Aleixo Muise, Giovanna Lucchini
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250271.
https://doi.org/10.70962/jhi.20250271
Published: 08 July 2026
View article titled, TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT
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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

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

Azzeddine Tahiat, Reda Belbouab, Abdelghani Yagoubi, Sofija Buta Panov, Lorenzo Cuollo, Kamel Djenouhat, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260042.
https://doi.org/10.70962/jhi.20260042
Published: 26 May 2026
View article titled, C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients
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Includes: Supplementary data
Journal Articles

Adult-onset STING-associated vasculopathy

Thomas R. Riley, IV, Jonathan J. Kotzin, Debby J. Park, Shubhasree Banerjee, Asako Takanohashi, Adeline Vanderver, Penn Medicine Biobank, Joshua F. Baker, Amanda V. Finck, Jonathan J. Miner
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250235.
https://doi.org/10.70962/jhi.20250235
Published: 11 May 2026
View article titled, Adult-onset STING-associated vasculopathy
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Includes: Supplementary data
Journal Articles

Primary atopic disorders: Monogenic insights into immunity

Bhavi P. Modi, Cassandra McDonald, Liam Golding, Leandro B.R. Da Silva, Catherine M. Biggs, Julia Körholz, Elliot L. James, Stuart E. Turvey
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260006.
https://doi.org/10.70962/jhi.20260006
Published: 07 May 2026
View article titled, Primary atopic disorders: Monogenic insights into immunity
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Journal Articles

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants

Nidia Moreno-Corona, Alice Valagussa, Lucie Poggi, Orestes Lopez-Ortega, Cécile Masson, Mohammed Zarhrate, Alexis Bertrand, Capucine Picard, Patrick Revy, Damien Bodet, Jérémie Rouger, Martin Castelle, Alain Fischer, Marie-Françoise O'Donohue, Sven Kracker
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250061.
https://doi.org/10.70962/jhi.20250061
Published: 06 May 2026
View article titled, Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants
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Includes: Supplementary data
Journal Articles

X-linked SEPTIN6-related congenital neutropenia and B cell deficiency

Lauren M. Gunderman, Aleksandra Petrovic, Ingrid Lundgren, Karen M. Chisholm, Sandra D. Bohling, Jonathan R. Fromm, Alexandra Ferrannini, Troy R. Torgerson, Cullen M. Dutmer, Elena W.Y. Hsieh, Safa F. Mohamad, David A. Williams, Eric J. Allenspach
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250173.
https://doi.org/10.70962/jhi.20250173
Published: 04 May 2026
View article titled, X-linked SEPTIN6-related congenital neutropenia and B cell deficiency
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Includes: Supplementary data
Journal Articles

How I Treat: Immune dysregulation in Down syndrome

Melissa Gans, Matthew Wyke, Kayra Somay, Willa Thorson, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250161.
https://doi.org/10.70962/jhi.20250161
Published: 04 May 2026
View article titled, How I Treat: Immune dysregulation in Down syndrome
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Journal Articles

Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome

Viktoria Hennings, Jenny Lingman Framme, Karolina Thörn, Christina Lundqvist, Andri Lemarquis, Solveig Oskarsdottir, Esbjörn Telemo, Åsa Björklund, Olov Ekwall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20260011.
https://doi.org/10.70962/jhi.20260011
Published: 04 May 2026
View article titled, Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome
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Includes: Supplementary data
Journal Articles

Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India

Sagar Bhattad, Neha Singh, Rachna S. Mohite, Jyothi Janardhanan, Srikanta J.T., Anuj Shukla, Srinivas Jakka, Ranjit B. Joseph
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250251.
https://doi.org/10.70962/jhi.20250251
Published: 21 April 2026
View article titled, Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India
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Journal Articles

Kawasaki disease complicated by macrophage activation syndrome treated with canakinumab

Stejara A. Netea, Diana van Stijn, Mariken P. Gruppen, J. Merlijn van den Berg, Nico A. Blom, Irene M. Kuipers, Taco W. Kuijpers
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250240.
https://doi.org/10.70962/jhi.20250240
Published: 09 April 2026
View article titled, Kawasaki disease complicated by macrophage activation syndrome treated with canakinumab
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Journal Articles

Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease

Cliodhna Murray, Michael J. Harrison, Timothy R. Leahy, Caríosa Lee-Brennan
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (4): e20250126.
https://doi.org/10.70962/jhi.20250126
Published: 09 April 2026
View article titled, Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease
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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

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency

Alexandra E. Grier, Marita Bosticardo, Francesca Pala, Ottavia M. Delmonte, Kayla Amini, Eduardo Anaya, Neil Romberg, Susan E. McClory, Nancy J. Bunin, Manar Abdalgani, Luigi D. Notarangelo, Jennifer Heimall
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250169.
https://doi.org/10.70962/jhi.20250169
Published: 06 March 2026
View article titled, Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency
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Journal Articles

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom

Ben Shillitoe, Helen Bourne, Catherine Stroud, Terry Flood, Matthew Buckland, Winnie Ip, Austen Worth, Scott Hackett, Archana Herwadkar, Tanya Coulter, Stephen Jolles, Tomaz Garcez, Eduardo Moya, Saul N. Faust, Mark S. Pearce, Andrew R. Gennery
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250198.
https://doi.org/10.70962/jhi.20250198
Published: 19 February 2026
View article titled, Quality of life of X-linked agammaglobulinemia patients in the United Kingdom
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Includes: Supplementary data
Journal Articles

Expanding the scope of human immunology in the Journal of Human Immunity

Petter Brodin, JHI associate and consulting editors, JHI society editors, Megan Cooper, Jean-Laurent Casanova
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20260012.
https://doi.org/10.70962/jhi.20260012
Published: 13 February 2026
View article titled, Expanding the scope of human immunology in the Journal of Human Immunity
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Includes: Supplementary data
Journal Articles

Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision

Mattia Moratti, Beatrice Rivalta, Antonello Cardoni, Veronica Santilli, Enrico Attardi, Emma Concetta Manno, Riccardo Ciudino, Silvia Di Cesare, Cristina Cifaldi, Chiara Mengoli, Edoardo Muratore, Samuele Naviglio, Paola Selva, Simona Ferrari, Gigliola Di Matteo, Alessandro Broccoli, Nicola Cotugno, Donato Amodio, Riccardo Masetti, Elena Facchini, Pier Luigi Zinzani, Marcello Lanari, Cinzia Milito, Alberto Tommasini, Rita De Vito, Andrea Finocchi, Rita Alaggio, Elena Sabattini, Caterina Cancrini, Francesca Conti
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250174.
https://doi.org/10.70962/jhi.20250174
Published: 13 February 2026
View article titled, Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision
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Includes: Supplementary data
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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