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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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