Lankester, Arjan C Neven, Benedicte Mahlaoui, Nizar von Asmuth, Erik G J Courteille, Virginie Alligon, Mikael Albert, Michael H Serra, Isabelle Badell Bader, Peter Balashov, Dmitry
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Published in
The Journal of allergy and clinical immunology
Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR...
Wang, Wei Han, Dong Cai, Qinbo Shen, Tao Dong, Bingning Lewis, Michael T Wang, Runsheng Meng, Yanling Zhou, Wolong Yi, Ping
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About 15-20% of breast cancer (BCa) is triple-negative BCa (TNBC), a devastating disease with limited therapeutic options. Aberrations in the PI3K/PTEN signaling pathway are common in TNBC. However, the therapeutic impact of PI3K inhibitors in TNBC has been limited and the mechanism(s) underlying this lack of efficacy remain elusive. Here, we demon...
Good, Charly R Aznar, M Angela Kuramitsu, Shunichiro Samareh, Parisa Agarwal, Sangya Donahue, Greg Ishiyama, Kenichi Wellhausen, Nils Rennels, Austin K Ma, Yujie
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Chimeric antigen receptor (CAR) T cell therapy has achieved remarkable success in hematological malignancies but remains ineffective in solid tumors, due in part to CAR T cell exhaustion in the solid tumor microenvironment. To study dysfunction of mesothelin-redirected CAR T cells in pancreatic cancer, we establish a robust model of continuous anti...
Adatia, Adil Ling, Ling Chakraborty, Pranesh Brick, Lauren Brager, Rae
Published in
Allergy, Asthma & Clinical Immunology
Severe combined immunodeficiency (SCID) is a rare genetic condition characterized by significant T cell lymphopenia and impaired T cell function. Many jurisdictions use the quantitation of T cell receptor excision circles (TRECs) to screen for SCID in newborns, but false positives may be seen in several conditions. We report 3 newborns with neonata...
Yahya, Amal M. Al-Hammadi, Suleiman AlHashaykeh, Nidal O. Alkaabi, Salwa S. Elomami, Abdulghani S. AlMulla, Asia A. Alremeithi, Majed M. Kabbary, Rewan M. Vijayan, Ranjit Souid, Abdul-Kader
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Published in
Frontiers in Pediatrics
We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmet...
Blom, Maartje Pico-Knijnenburg, Ingrid Imholz, Sandra Vissers, Lotte Schulze, Janika Werner, Jeannette Bredius, Robbert van der Burg, Mirjam
Published in
Journal of clinical immunology
Newborn screening (NBS) for severe combined immunodeficiency (SCID) is based on the detection of T-cell receptor excision circles (TRECs). TRECs are a sensitive biomarker for T-cell lymphopenia, but not specific for SCID. This creates a palette of secondary findings associated with low T-cells that require follow-up and treatment or are non-actiona...
Suryawanshi, Gajendra W Arokium, Hubert Kim, Sanggu Khamaikawin, Wannisa Lin, Samantha Shimizu, Saki Chupradit, Koollawat Lee, YooJin Xie, Yiming Guan, Xin
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BackgroundCurrent understanding of hematopoiesis is largely derived from mouse models that are physiologically distant from humans. Humanized mice provide the most physiologically relevant small animal model to study human diseases, most notably preclinical gene therapy studies. However, the clonal repopulation dynamics of human hematopoietic stem ...
Lugo-Reyes, Saul Oswaldo Pastor, Nina González-Serrano, Edith Yamazaki-Nakashimada, Marco Antonio Scheffler-Mendoza, Selma Berron-Ruiz, Laura Wakida, Guillermo Nuñez-Nuñez, Maria Enriqueta Macias-Robles, Ana Paola Staines-Boone, Aide Tamara
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Published in
Journal of clinical immunology
Mutations in recombinase activating genes 1 and 2 (RAG1/2) result in human severe combined immunodeficiency (SCID). The products of these genes are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Mutations resulting in null-recombination activity in RAG1 or RAG2 are associated with the most severe clinical ...
Giuliani, Virginia Miller, Meredith A Liu, Chiu-Yi Hartono, Stella R Class, Caleb A Bristow, Christopher A Suzuki, Erika Sanz, Lionel A Gao, Guang Gay, Jason P
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Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer that has remained clinically challenging to manage. Here we employ an RNAi-based in vivo functional genomics platform to determine epigenetic vulnerabilities across a panel of patient-derived PDAC models. Through this, we identify protein arginine methyltransferase 1 (PRMT1) as a criti...
Gardner, Cameron L Pavel-Dinu, Mara Dobbs, Kerry Bosticardo, Marita Reardon, Paul K Lack, Justin DeRavin, Suk See Le, Kent Bello, Ezekiel Pala, Francesca
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Published in
Journal of clinical immunology
Severe combined immune deficiency (SCID) caused by RAG1 or RAG2 deficiency is a genetically determined immune deficiency characterized by the virtual absence of T and B lymphocytes. Unless treated with hematopoietic stem cell transplantation (HSCT), patients with RAG deficiency succumb to severe infections early in life. However, HSCT carries the r...
