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Journal Articles

PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants

Alexander Vargas-Hernández, Kejian Zhang, Lalith Perera, Michail S. Lionakis, Stefania Pittaluga, Caridad Martinez, Gulbu Uzel, Erin Morales, Josaura Fernandez, Lisa Forbes Satter, Michael B. Jordan, Sebastián Ochoa
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.86.
https://doi.org/10.70962/CIS2026abstract.86
Published: 01 May 2026
View article titled, PI3K Signaling Pathway Abnormalities in Two Patients with PIK3CD (p110δ) Loss-of-Function (LOF) Variants
Journal Articles

Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience

Erin Morales, Josaura Fernandez, Sebastian Ochoa, Lisa Forbes-Satter, Erin Doherty, Khaled Yassine, David Steffin, Baheyeldin Salem, Megha Thakkar, John Craddock, Gabriela Llaurador, Anil George, Alexander Ngwube, Ivan Chinn, Javier Chinen, Joan Reynoso, Lenora Noroski, Helen Heslop, Robert Krance, Caridad Martinez
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.84.
https://doi.org/10.70962/CIS2026abstract.84
Published: 01 May 2026
View article titled, Outcomes for Patients with CGD Undergoing HSCT Over the Past 2 Decades: A Single-Center Experience
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
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

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)
Journal: Journal of Human Immunity
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
Open the PDF for Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging in another window
Includes: Supplementary data
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