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Journal Articles

Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study

Virdette L. Brumm, Sharon A. Kidd, Brent R. Logan, Farheen Chunara, Jennifer Heimall, Linda M. Griffith, Donald B. Kohn, Lauren Sanchez, Jeffrey J. Bednarski, Caridad Martinez, Mark Vander Lugt, Neena Kapoor, Nicola Wright, Barbara Spitzer, Joseph H. Oved, Sharat Chandra, Deepak Chellapandian, Christen L. Ebens, Aleks Petrovic, Ahmad Rayes, Hilary L. Haines, Hannah Lust, Hannah-Lise Tirado Schofield, Lauren Christopher, Lynnette L. Harris, Lisa Forbes Satter, Lauri Burroughs, Christopher C. Dvorak, Elie Haddad, Jennifer W. Leiding, Rebecca A. Marsh, Luigi D. Notarangelo, Sung Yun Pai, Michael A. Pulsipher, Jennifer M. Puck, Morton J. Cowan, Ami J. Shah
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250163.
https://doi.org/10.70962/jhi.20250163
Published: 17 December 2025
View article titled, Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study
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Includes: Supplementary data
Journal Articles

ICF syndrome: An epigenetic paradigm for primary immunodeficiencies

Ricardo Martins-Ferreira, Esteban Ballestar
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250165.
https://doi.org/10.70962/jhi.20250165
Published: 05 December 2025
View article titled, ICF syndrome: An epigenetic paradigm for primary immunodeficiencies
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Journal Articles

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry, Stéphane Bézieau, Monique Fabre, Martin Castelle, Bénédicte Neven, Despina Moshous, Jean-Pierre de Villartay, Frédéric Ebstein
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250096.
https://doi.org/10.70962/jhi.20250096
Published: 18 November 2025
View article titled, Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease
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Includes: Supplementary data
Journal Articles

The systemic effects of 22q11.2 deletion syndrome on immunity

Nicolai S.C. van Oers, Kathleen E. Sullivan
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250190.
https://doi.org/10.70962/jhi.20250190
Published: 30 October 2025
View article titled, The systemic effects of 22q11.2 deletion syndrome on immunity
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Journal Articles

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset

Tahereh Noori, Anit Kaur, Altaf Hussain Kambay, Aaqib Zaffar Banday, Ilia Voskoboinik
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250100.
https://doi.org/10.70962/jhi.20250100
Published: 07 October 2025
View article titled, Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset
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Includes: Supplementary data
Journal Articles

A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease

Jeremy Richard Brozyna, Rosemary Moak, Loretta Modica Parker, Thomas Prescott Atkinson
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250124.
https://doi.org/10.70962/jhi.20250124
Published: 22 August 2025
View article titled, A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease
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Journal Articles

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion

Pratibha Bhalla, Neha Ahuja, Ashwani Kumar, Chao Xing, Angela Moses, Ashutosh Shukla, Katelyn Boetel, Bret M. Evers, John M. Shelton, Maria Teresa de la Morena, Christian A. Wysocki, Ondine B. Cleaver, Nicolai S.C. van Oers
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250143.
https://doi.org/10.70962/jhi.20250143
Published: 12 August 2025
View article titled, Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
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Includes: Supplementary data
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

Two different forms of inherited human TCRα chain deficiency

Marie Materna, Simin Seyedpour, Tom Le Voyer, Nima Parvaneh, Niloufar Yazdanpanah, Amir Ali Hamidieh, Mehrzad Mehdizadeh, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Krishnajina Amarajeeva, Mana Momenilandi, Jean-Laurent Casanova, Mohammad Shahrooei, Jacinta Bustamante, Nima Rezaei, Vivien Béziat
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (2): e20250014.
https://doi.org/10.70962/jhi.20250014
Published: 04 June 2025
View article titled, Two different forms of inherited human TCRα chain deficiency
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Includes: Supplementary data