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Journal Articles

Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial

Toshinao Kawai, Mayumi Sako, Katsuhiro Arai, Takashi Ishikawa, Tomoko Toma, Taizo Wada, Yutaro Yada, Masataka Ishimura, Takehiko Doi, Satoshi Okada, Hiroshi Moritake, Kazushi Izawa, Masahiro Ueki, Eisuke Inoue, Hidefumi Nakamura, Masafumi Onodera
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250256.
https://doi.org/10.70962/jhi.20250256
Published: 23 June 2026
View article titled, Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial
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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

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

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

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

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

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

Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency

Christen L. Ebens, Smitha Hosahalli Vasanna, Diana Vilkama, Tamara C. Pozos, Attila Kumánovics, Alison Hornyak, Amir A. Sadighi Akha
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250212.
https://doi.org/10.70962/jhi.20250212
Published: 17 February 2026
View article titled, Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency
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Journal Articles

Inborn errors of immunity at school: How can we do better?

Laura Lopez-Seguer, Sonia Rodriguez-Tello, Miriam Gonzalez-Amores, Andrea Martin-Nalda, Stephany Zelada, Saida Ridao Manonellas, Sonia Galindo-Maycas, Carlota Villar, Jacques G. Riviere, Pere Soler-Palacin
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250120.
https://doi.org/10.70962/jhi.20250120
Published: 17 February 2026
View article titled, Inborn errors of immunity at school: How can we do better?
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Journal Articles

Clinical experience with emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis

Yulia Rodina, Vasiliy Burlakov, Varvara Brilliantova, Anna Roppelt, Nelli Kan, Ulijna Petrova, Elena Raykina, Dmitry Pershin, Dmitry Balashov, Alexey Maschan, Galina Novichkova, Anna Shcherbina
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250122.
https://doi.org/10.70962/jhi.20250122
Published: 11 December 2025
View article titled, Clinical experience with emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis
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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

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

Emilie Pauline Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, Laura Alonso Garcia, Erik von Asmuth, Safa Baris, Oscar de la Calle-Martín, Alice Y. Chan, Su-Wan Bianca Chan, Shanmuganathan Chandrakasan, Deepakbabu Chellapandian, Jasmeen Dara, Susan Farmand, Anders Fasth, Lisa Forbes Satter, Renata Formankova, Eyal Grunebaum, Steven J. Keogh, Ayça Kiykim, Jörn-Sven Kühl, Alexandra Laberko, Timothy Ronan Leahy, Caroline Lindemans, Caridad Martinez, Laura Martínez-Martínez, William Glenn Mitchell, Emma Morris, Joseph H. Oved, Maria Polacik, Jacques G. Rivière, Chaim M. Roifman, Sara Sebnem Kilic, Petr Sedlacek, Ami J. Shah, Linda Vong, Arjan C. Lankester, Michael H. Albert, Bénédicte Neven, Troy Torgerson, Jennifer Leiding, Catharina Schuetz, Inborn Errors Working Party (IEWP),, European Society for Blood and Marrow Transplantation (EBMT), and Primary Immunodeficiency Treatment Consortium (PIDTC)
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250027.
https://doi.org/10.70962/jhi.20250027
Published: 30 July 2025
View article titled, Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
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Includes: Supplementary data
Journal Articles

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening

Yusuke Imanaka, Takaki Asano, Kosuke Noma, Fumiaki Sakura, Norifumi Nishioka, Yoko Mizoguchi, Takahiro Kamiya, Hirokazu Kanegane, Satoshi Okada
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250057.
https://doi.org/10.70962/jhi.20250057
Published: 14 July 2025
View article titled, X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening
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Journal Articles

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

Erica G. Schmitt, Nermina Saucier, Samuel I. Risma, Sena N. Arbag, Ana Kolicheski, Alexander J. Paul, Tomi L. Toler, Katarina Semkiu, Soe S. Mar, Joshua D. Milner, Jeffrey J. Bednarski, Megan A. Cooper
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250060.
https://doi.org/10.70962/jhi.20250060
Published: 08 July 2025
View article titled, Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity
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Journal Articles

Immunotherapy as rescue for cardiomyopathy in Omenn syndrome

Simon Boutinaud, Vincent Barlogis, Lionel Berthomieu, Montserrat Sierra Colomina, Marlène Pasquet
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250046.
https://doi.org/10.70962/jhi.20250046
Published: 23 June 2025
View article titled, Immunotherapy as rescue for cardiomyopathy in Omenn syndrome
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Journal Articles

Topical JAK inhibitor for refractory skin inflammation in STAT1 GOF

Valentina Guarnieri, Tiphaine Arlabosse, Claire Booth, Gabriela Petrof
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250049.
https://doi.org/10.70962/jhi.20250049
Published: 16 June 2025
View article titled, Topical JAK inhibitor for refractory skin inflammation in STAT1 GOF
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