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Journal Articles

Quality of Life in Patients with Severe Combined Immunodeficiency (SCID) Treated with Hematopoietic Cell Transplantation in the Modern Era: A Primary Immune Deficiency Consortium (PIDTC) Study

Lauren Sanchez, Brent Logan, Sravya Dammalapati, Joy Liu, Rebecca Buckley, Hesham Eissa, Linda Griffith, Joud Hajjar, Holly Miller, Erin Morales, Ayelet Rosenthal, Ami Shah, Monica Thakar, Morna Dorsey, Christen Ebens, Ahmad Rayes, Victor Aquino, Lauri Burroughs, Alice Chan, Christopher Dvorak, Elie Haddad, Jennifer Leiding, Rebecca Marsh, Luigi Notarangelo, Sung-Yun Pai, Jennifer Puck, Michael Pulsipher, Troy Torgerson, Jennifer Heimall, Morton Cowan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.90.
https://doi.org/10.70962/CIS2026abstract.90
Published: 01 May 2026
View article titled, Quality of Life in Patients with Severe Combined Immunodeficiency (SCID) Treated with Hematopoietic Cell Transplantation in the Modern Era: A Primary Immune Deficiency Consortium (PIDTC) Study
Includes: Supplementary data
Journal Articles

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia

Sujal Ghosh, Yuqin Wang, Christoph Schultheiss, Arndt Borkhardt, Angelique Sanchez Dafun, Liisa Knipp, Sebastian Marwitz, Stephan Ehl, Clara Soulard, Elie Haddad, Debayan Dey, Grace Evans, Zainab M. Golwala, Sabrina B. Bennstein, Hans-Jürgen Laws, Meino Rohlfs, Thomas Magg, Mascha Binder, Alexandra Y. Kreins, Marie-Pierre Bousquet, Julien Marcoux, Christoph Klein, Graeme L. Conn, Silke Meiners, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (3): e20250129.
https://doi.org/10.70962/jhi.20250129
Published: 09 April 2026
View article titled, Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia
Open the PDF for Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia in another window
Includes: Supplementary data
Journal Articles

Outcomes Following Hematopoietic Cell Transplant in CD3δ SCID Patients in Canada

Tatiana Kalashnikova, Geoffrey D.E. Cuvelier, Gregory M.T. Guilcher, Victor Lewis, Ashish Marwaha, Luis Murguia-Favela, Tamar Rubin, Ashley Chopek, Sneha Suresh, Brenda Turley, Jennifer Leiding, Lauri Burroughs, Linda M. Griffith, Luigi D. Notarangelo, Michael A. Pulsipher, Morton J. Cowan, Rebecca Marsh, Sung-Yun Pai, Troy Torgerson, Jennifer M. Puck, Christopher C. Dvorak, Jennifer Heimall, Alice Y. Chan, Elie Haddad, Donald B. Kohn, Nicola A.M. Wright
Journal: Journal of Human Immunity
Series: LASID Meeting Abstracts 2025
J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.22.
https://doi.org/10.70962/LASID2025abstract.22
Published: 22 December 2025
View article titled, Outcomes Following Hematopoietic Cell Transplant in CD3δ SCID Patients in Canada
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
Open the PDF for Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study in another window
Includes: Supplementary data
Journal Articles

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P.A. Henderson, Anne Pham-Huy
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250102.
https://doi.org/10.70962/jhi.20250102
Published: 10 November 2025
View article titled, Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
Open the PDF for Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening in another window
Journal Articles

Allogeneic Hematopoietic Stem Cell Transplant Restores Naïve T Cell Immune Reconstitution in Infants with SCID Phenotype due to EXTL3 Deficiency

Azada Ibrahimova, Selina Gierer, Elie Haddad, Sharat Chandra
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.10.
https://doi.org/10.70962/CIS2025abstract.10
Published: 25 April 2025
View article titled, Allogeneic Hematopoietic Stem Cell Transplant Restores Naïve T Cell Immune Reconstitution in Infants with SCID Phenotype due to EXTL3 Deficiency
Journal Articles

Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey

Christin Deal, Anika Jain, Danielle Arnold, Suhag Parikh, Rebecca Marsh, Aleksandra Petrovic, Kanwaldeep Mallhi, Deepak Chellapandian, Eyal Grunebaum, E Liana Falcone, Luis Murguia-Favela, Elizabeth Kang, Harry Malech, Christopher Dvorak, Elie Haddad, Donald Kohn, Linda Griffith, Luigi Notarangelo, Michael A. Pulsipher, Alice Chan, Lauri Burroughs, Mort Cowan, Sung-Yun Pai, Troy Torgerson, Jennifer Puck, Jennifer Heimall, Felicia Morton, Jennifer Leiding
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.2.
https://doi.org/10.70962/CIS2025abstract.2
Published: 25 April 2025
View article titled, Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey
Journal Articles

Expanding the Landscape of Inborn Errors of Immunity in Hematological Disorders: A Prospective Study on Hidden IEI and IEI Phenocopies

Filippo Consonni, Tommaso Montecchi, Annalisa Tondo, Frédéric Rieux-Laucat, Pere Soler-Palacín, Jacques Gabriel Riviere, Elie Haddad, Vincent-Philippe Lavallée, Maria Teresa Voso, Enrico Attardi, Qiang Pan Hammarström, Donatella Capone, Eleonora Gambineri
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.245.
https://doi.org/10.70962/CIS2025abstract.245
Published: 25 April 2025
View article titled, Expanding the Landscape of Inborn Errors of Immunity in Hematological Disorders: A Prospective Study on Hidden IEI and IEI Phenocopies
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