Full Text Journal Articles by
Author Alexandra H Filipovich

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PAX1 is essential for development and function of the human thymus.

Yasuhiro Yamazaki, Raul Urrutia, Luis M Franco, Silvia Giliani, Kejian Zhang, Anas M Alazami, A Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C Alexander Valencia, Alexandra H Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander K Al-Saud, Hamoud Al-Mousa, Jean Laurent Casanova, Roshini S Abraham, Luigi D Notarangelo,

We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. We identified rare biallelic PAX1 rare variants in all patients. ... Read more >>

Sci Immunol (Science immunology)
[2020, 5(44):eaax1036]

Cited: 18 times

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Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.

Francesca Minoia, Francesca Bovis, Sergio Davì, Antonella Insalaco, Kai Lehmberg, Susan Shenoi, Sheila Weitzman, Graciela Espada, Yi-Jin Gao, Jordi Anton, Toshiyuki Kitoh, Ozgur Kasapcopur, Helga Sanner, Rosa Merino, Itziar Astigarraga, Maria Alessio, Michael Jeng, Vyacheslav Chasnyk, Kim E Nichols, Zeng Huasong, Caifeng Li, Concetta Micalizzi, Nicolino Ruperto, Alberto Martini, Randy Q Cron, Angelo Ravelli, AnnaCarin Horne, ,

<h4>Objective</h4>To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis.<h4>Study design</h4>The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty ... Read more >>

J Pediatr (The Journal of pediatrics)
[2017, 189:72-78.e3]

Cited: 15 times

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