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Journal Articles

Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Valentina Guarnieri, Jesmeen Maimaris, Sohilla Lotfy, Elizabeth Rivers, Stuart Adams, Kimberly Gilmour, Andrea Meinhardt, Arnold Awuah, Mercedes Selby, Daisy Shillingford, Emma Gravett, Susanne Kricke Orszulik, Waseem Qasim, David Goldblatt, Helen Braggins, Robert Chiesa, Maaike Kusters, Reem Elfeky

J Hum Immun (2026) 2 (2): e20250076.

https://doi.org/10.70962/jhi.20250076

Published: 06 February 2026

View article titled, Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Includes: Supplementary data

Journal Articles

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Annelotte J. Duintjer, Robbert G.M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Mariëlle E. van Gijn, Stefanie S. Henriet, Evelien A. Kemper, Taco W. Kuijpers, G. Elizabeth Legger, Joris M. van Montfrans, Liesbeth H. Schölvinck, Clementien L. Vermont, Els Voorhoeve, Gert Weijman, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Mirjam van der Burg, Maartje Blom

J Hum Immun (2026) 2 (2): e20250205.

https://doi.org/10.70962/jhi.20250205

Published: 05 February 2026

View article titled, Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Includes: Supplementary data

Journal Articles

Viral infection and brain inflammation with seizures in PARK7 deficiency

Jonas Lønskov, Annika Sünderhauf, Sisse Andersen, Caroline Bækmann Jeppesen, Franziska Winzig, Daniëla Maria Hinke, Johanna L. Heinz, Kenneth Thomsen, Mette B. Thorup, Thomas Zillinger, Bettina Bundgaard, Kerstin De Keukeleere, Sofie Eg Jørgensen, Jakob Ek, Elsebet Østergaard, Jakob Christensen, Mette Møller Handrup, Renee M. van der Sluis, Trine H. Mogensen

J Hum Immun (2025) 2 (2): e20250044.

https://doi.org/10.70962/jhi.20250044

Published: 26 December 2025

View article titled, Viral infection and brain inflammation with seizures in PARK7 deficiency

Includes: Supplementary data

Journal Articles

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

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

Includes: Supplementary data

Journal Articles

ICF syndrome: An epigenetic paradigm for primary immunodeficiencies

Ricardo Martins-Ferreira, Esteban Ballestar

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

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

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

Includes: Supplementary data

Journal Articles

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

Nicolai S.C. van Oers, Kathleen E. Sullivan

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

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

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

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

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

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

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

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)

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

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

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

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

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

Includes: Supplementary data

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Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Viral infection and brain inflammation with seizures in PARK7 deficiency

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

ICF syndrome: An epigenetic paradigm for primary immunodeficiencies

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

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

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

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

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

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

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

Two different forms of inherited human TCRα chain deficiency

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