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Journal Articles

SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease

Farsh Moussavi-Harami, Matt Zinter, Marialetizia Motta, Luca Pannone, Paolo Calligari, Anne Slavotinek, Pierre-Marie Martin, Henry Sanchez, Lauren Sanchez, Iman Ragab, Clare Abram, Martin Broly, Yasmina Abi Ayad, Amina Serradj, Guilaine Boursier, Aida M. Bertoli-Avella, Mukunth Sadagapan, Amy Hsu, Steven Holland, Gianfranco Bocchinfuso, Lorenzo Stella, Simone Martinelli, Bruno Reversade, Marco Tartaglia, Clifford Lowell, Mark R. Looney, Alice Chan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.18.
https://doi.org/10.70962/CIS2026abstract.18
Published: 01 May 2026
View article titled, SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease
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

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

Homozygous STAT-1 Loss of Function Presenting with Recurrent Respiratory Infections and Pneumocystis jirovecii Pneumonia

Lauren Sanchez, Gabriel Salinas-Cisneros
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.205.
https://doi.org/10.70962/CIS2025abstract.205
Published: 25 April 2025
View article titled, Homozygous STAT-1 Loss of Function Presenting with Recurrent Respiratory Infections and Pneumocystis jirovecii Pneumonia
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