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Journal Articles

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Clémence David, Anne Welfringer-Morin, Luis Seabra, Yanick J. Crow, Marie Jachiet, Marie-Louise Frémond
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20260007.
https://doi.org/10.70962/jhi.20260007
Published: 27 March 2026
View article titled, Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus
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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

Toward a monogenic architecture of human infections: From 1996 to 2026

Jean-Laurent Casanova
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20260027.
https://doi.org/10.70962/jhi.20260027
Published: 27 March 2026
View article titled, Toward a monogenic architecture of human infections: From 1996 to 2026
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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

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

Apolipoproteins L involvement in immunity

Etienne Pays
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250259.
https://doi.org/10.70962/jhi.20250259
Published: 19 March 2026
View article titled, Apolipoproteins L involvement in immunity
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Journal Articles

Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report

Julian Thalhammer, Bénédicte Bruno, Sylvain Latour, Benjamin Fournier, Wadih Abou Chahla
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250228.
https://doi.org/10.70962/jhi.20250228
Published: 17 March 2026
View article titled, Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report
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Journal Articles

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts

Adrian Gervais, Francesca Trespidi, Alessandro Ferrari, Francesca Rovida, Astrid Marchal, Stefania Croce, Irene Cassaniti, Mattia Moratti, Jennifer L. Uhrlaub, David M. Florian, Karin Stiasny, Elisa Burdino, Micol Angelini, Lucy Bizien, Daniele Lilleri, Veronica Codullo, Tal Freund, Yael Paran, Avi Gadoth, Roni Biran, Alessandro Mancon, Camilla Lucca, Stefania Vogiatzis, Monia Pacenti, Mélodie Aubart, Marco Zecca, Patrizia Comoli, Maria Antonietta Avanzini, Jacques Fellay, Antonio Piralla, Francesca Conti, Alberto Dolci, Luisa Barzon, Valeria Ghisetti, Tiziana Lazzarotto, Danilo Cereda, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Margaret R. MacDonald, Charles M. Rice, Anne Puel, Laurent Abel, Giada Rossini, Davide Mileto, Yannick Simonin, Anna Nagy, David Hagin, Kristy O. Murray, Fausto Baldanti, Judith H. Aberle, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250189.
https://doi.org/10.70962/jhi.20250189
Published: 13 March 2026
View article titled, Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts
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Includes: Supplementary data
Journal Articles

Polyclonal evolution of lymphoproliferative disorders in XLP1

Dan Tomomasa, Akira Nishimura, Kenichi Yoshida, Yui Namikawa, Doo Ri Kim, Naoki Sakata, Kenichi Sakamoto, Takashi Taga, Yuta Sakai, Yasuhiro Ikawa, Toshiaki Ishida, Areum Shin, Keon Hee Yoo, Yae-Jean Kim, Seishi Ogawa, Akihiro Hoshino, Tomohiro Morio, Masatoshi Takagi, Hirokazu Kanegane
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250202.
https://doi.org/10.70962/jhi.20250202
Published: 12 March 2026
View article titled, Polyclonal evolution of lymphoproliferative disorders in XLP1
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Journal Articles

Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency

Marie Roelens, Anna-Lena Neehus, Jérémie Rosain, Gislène Collobert, Nathalie Boddaert, Liana Carausu, Jacinta Bustamante
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250160.
https://doi.org/10.70962/jhi.20250160
Published: 10 March 2026
View article titled, Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency
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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

Hematopoietic stem cell transplantation following invasive mold infection in chronic granulomatous disease: Insights from a case series and literature review

Hugo Bes-Berlandier, Olivier Paccoud, Benedicte Neven, Marie Elisabeth Bougnoux, Emilie Sitterlé, Ambroise Marcais, Morgane Cheminant, Despina Moshous, Rinzine Sammut, Pierre Simon Rohrlich, Nizar Mahlaoui, Olivier Lortholary, Felipe Suarez, Fanny Lanternier
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250164.
https://doi.org/10.70962/jhi.20250164
Published: 05 March 2026
View article titled, Hematopoietic stem cell transplantation following invasive mold infection in chronic granulomatous disease: Insights from a case series and literature review
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Includes: Supplementary data
Journal Articles

Low levels of IgG2 and pneumococcal antibodies as predictors of benefit from IgG replacement in IgG subclass deficiency

Per Wågström, Katarina Nyström, Janne Björkander, Mats Nilsson, Charlotte Dahle, Åsa Nilsdotter-Augustinsson, Lillemor Skattum, Sofia Nyström
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250188.
https://doi.org/10.70962/jhi.20250188
Published: 03 March 2026
View article titled, Low levels of IgG2 and pneumococcal antibodies as predictors of benefit from IgG replacement in IgG subclass deficiency
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Journal Articles

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome

Sisse Andersen, Kristian Assing, Julie Jensen, Line Dahlerup Rasmussen, Christian B. Laursen, Christoffer D. Dellgren, Daniëla Maria Hinke, Søren E. Degn, Trine H. Mogensen
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250119.
https://doi.org/10.70962/jhi.20250119
Published: 03 March 2026
View article titled, Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome
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Includes: Supplementary data
Journal Articles

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Nicolas Chamberlain, Matthew A. Deardorff, Shintaro Funaki, Takaki Asano, Jean-Laurent Casanova, Hedieh Torabifard, Bertrand Boisson, Eric Meffre
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250194.
https://doi.org/10.70962/jhi.20250194
Published: 24 February 2026
View article titled, Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus
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Includes: Supplementary data
Journal Articles

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis

Christos Sazeides, Lorenzo Cuollo, Ikjot Sidhu, Haley E. Randolph, Marta Martin-Fernandez, Sofija Buta, O’ Jay Stewart, Rachel Geltman, Jonas A. Adalsteinsson, Robert G. Phelps, Amir Horowitz, David Stein, Mariam Youssef, Andres Martinez-Muniz, Michelle Hernandez, Michail S. Lionakis, Alexis Boneparth, Joshua D. Milner, Shruti Naik, Dusan Bogunovic
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250011.
https://doi.org/10.70962/jhi.20250011
Published: 24 February 2026
View article titled, Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosis
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Includes: Supplementary data
Journal Articles

TLR7 mutations leading to enhanced TLR7 signaling in humans

Yanick J. Crow, Michael P. Gantier
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250266.
https://doi.org/10.70962/jhi.20250266
Published: 24 February 2026
View article titled, TLR7 mutations leading to enhanced TLR7 signaling in humans
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Journal Articles

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C

Anna Lyytikäinen, Yasaman Shamshirgaran, Hedvig Hjerpe, Sara Cajander, Emilie Wahren Borgström, Shaghayegh Gharaghani, Elina Erikson, Sofie Vonlanthen, Per Marits, Ola Hammarsten, C.I. Edvard Smith, Anders Fasth, Pegah Johansson
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250171.
https://doi.org/10.70962/jhi.20250171
Published: 20 February 2026
View article titled, Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C
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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

The early history of the ESID registry

Roberto Paganelli
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (2): e20250248.
https://doi.org/10.70962/jhi.20250248
Published: 18 February 2026
View article titled, The early history of the ESID registry
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