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Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

J Hum Immun (2026) 2 (5): e20250200.

https://doi.org/10.70962/jhi.20250200

Published: 29 July 2026

View article titled, Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

Includes: Supplementary data

Journal Articles

Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges

Stephen Jolles, Cecilia Poli, Nicholas L. Rider, Gabriela Negritu, Til Rendschmidt, Antonio Condino-Neto

J Hum Immun (2026) 2 (5): e20260028.

https://doi.org/10.70962/jhi.20260028

Published: 16 July 2026

View article titled, Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges

Journal Articles

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

Annelotte J. Duintjer, Maartje Blom, Robbert G.M. Bredius, Ingrid Pico-Knijnenburg, Adinda Heuperman, Hennie Hodemaekers, Sandra Imholz, Martijn E.T. Dollé, Ruben B. Brandsema, Lisette van de Corput, Stefanie S. Henriet, Taco W. Kuijpers, Joris M. van Montfrans, Clementien L. Vermont, Gijs T.J. van Well, Evelien Zonneveld-Huijssoon, Els Voorhoeve, Mariëlle E. van Gijn, Mirjam van der Burg

J Hum Immun (2026) 2 (5): e20260031.

https://doi.org/10.70962/jhi.20260031

Published: 16 July 2026

View article titled, Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

Includes: Supplementary data

Journal Articles

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

J Hum Immun (2026) 2 (5): e20250271.

https://doi.org/10.70962/jhi.20250271

Published: 08 July 2026

View article titled, TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

Journal Articles

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Lena E. Winestone, Brent R. Logan, Xuerong Liu, Olatundun Williams, Elizabeth A. Dunn, Monica S. Thakar, Sharon A. Kidd, Talal Mousallem, Morna J. Dorsey, Richard J. O’Reilly, Neena Kapoor, Lisa Forbes Satter, Malika Kapadia, Soma C. Jyonouchi, Sharat Chandra, Christen L. Ebens, Deepakbabu Chellapandian, Sonali Chaudhury, Karin Chen, Blachy J. Dávila Saldaña, Ahmad Rayes, Troy C. Quigg, Shanmuganathan Chandrakasan, Jeffrey J. Bednarski, Kenneth B. DeSantes, Pierre Teira, Alfred P. Gillio, Hesham Eissa, Alan P. Knutsen, Victor M. Aquino, Evan B. Shereck, Theodore B. Moore, Emi H. Caywood, Mark T. Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C. Yu, Ami J. Shah, Avni Y. Joshi, Rebecca H. Buckley, Jasmeen Dara, Joseph H. Oved, Hisham Abdel Azim, Caridad A. Martinez, Susan Prockop, Kathleen E. Sullivan, Jack J. Bleesing, Michael D. Keller, Lisa M. Madden, Suhag Parikh, Shalini Shenoy, Christine M. Seroogy, Tamar Rubin, Jennifer Licata, Jeffrey R. Andolina, Donald B. Kohn, Lauri Burroughs, Jennifer W. Leiding, Rebecca A. Marsh, Luigi D. Notarangelo, Sung-Yun Pai, Troy R. Torgerson, Michael A. Pulsipher, Jennifer Heimall, Geoffrey D.E. Cuvelier, Linda M. Griffith, Jennifer M. Puck, Christopher C. Dvorak, Morton J. Cowan, Elie Haddad

J Hum Immun (2026) 2 (5): e20250231.

https://doi.org/10.70962/jhi.20250231

Published: 07 July 2026

View article titled, Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Includes: Supplementary data

Journal Articles

Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation

Samantha Cresoe-Ortiz, Guglielmo Venturi, Elizabeth A. McCarthy, Benjamin Stewart-Bates, Jennifer R. Heimall, Eveline Y. Wu, John W. Sleasman, Geoffrey Hall

J Hum Immun (2026) 2 (4): e20260016.

https://doi.org/10.70962/jhi.20260016

Published: 26 May 2026

View article titled, Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation

Includes: Supplementary data

Journal Articles

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis

Manabu Wakamatsu, Yohko Kitagawa, Yusuke Tsumura, Yusuke Okuno, Yoshitaka Sato, Yoshiro Kamachi, Ryo Maemura, Masayuki Imaya, Ayako Yamamori, Kotaro Narita, Shinsuke Kataoka, Atsushi Narita, Nobuhiro Nishio, Seiji Kojima, Yoshiyuki Takahashi, Megumu K. Saito, Hideki Muramatsu

J Hum Immun (2026) 2 (3): e20250232.

https://doi.org/10.70962/jhi.20250232

Published: 06 April 2026

View article titled, Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis

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

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

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

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

Includes: Supplementary data

Journal Articles

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

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

Includes: Supplementary data

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

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?

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

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Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4^−/− severe combined immunodeficiency

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

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

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

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

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