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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

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
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