Automated Author Profile

Sayed, Samir

Children's Hospital of Philadelphia
0000-0003-4981-5721

Current S-Index

2.0

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

2.0

Average Dataset Index per dataset

Total Datasets

1

Total datasets for this author

Average FAIR Score

76.9%

Average FAIR Score per dataset

Total Citations

1

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants (Version: 8)

We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–a T cell receptor (pre-TCRa) expression. Low circulating naive ab T cell counts at birth persisted over time, with normal memory ab and high gd T cell counts. Their TCRa repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue ab T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive ab T cell counts but high gd T cell counts. Although residual pre-TCRa expression drove the differentiation of more ab T cells, autoimmune conditions were more frequent in these patients compared with the general population.

Authors

  • Materna, Marie ;
  • Delmonte, Ottavia ;
  • Bosticardo, Marita ;
  • Momenilandi, Mana ;
  • Conrey, Peyton ;
  • Charmeteau, Benedicte ;
  • Bravetti, Clotilde ;
  • Bellworthy, Rebecca ;
  • Cederholm, Axel ;
  • Staels, Frederik ;
  • Ganoza, Christian A. ;
  • Darko, Samuel ;
  • Sayed, Samir ;
  • Le Floc'h, Corentin ;
  • Ogishi, Masato ;
  • Rinchai, Darawan ;
  • Guenoun, Andrea ;
  • Bolze, Alexandre ;
  • Khan, Taushif ;
  • Gervais, Adrian ;
  • Krüger, Renate ;
  • Völler, Mirjam ;
  • Palterer, Boaz ;
  • Sadeghi-Shabestari, Mahnaz ;
  • Langlois de Septenville, Anne ;
  • Schramm, Chaim ;
  • Shah, Sanjana ;
  • Tello-Cajiao, John ;
  • Pala, Francesca ;
  • Amini, Kayla ;
  • Campos, Jose S. ;
  • Lima, Noemia ;
  • Eriksson, Daniel ;
  • Lévy, Romain ;
  • Seeleuthner, Yoann ;
  • Jyonouchi, Soma ;
  • Ata, Manar ;
  • Al Ali, Fatima ;
  • Deswarte, Caroline ;
  • Pereira, Anaïs ;
  • Mégret, Jérôme Mégret ;
  • Le Voyer, Tom ;
  • Bastard, Paul Bastard ;
  • Berteloot, Laureline ;
  • Dussiot, Michael ;
  • Vladikine, Natasha ;
  • Cardenas, Paula P. ;
  • Jouanguy, Emmanuelle ;
  • Al-Qahtani, Mashael ;
  • Hasan, Amal ;
  • Thanaraj, Thangavel Alphonse ;
  • Rosain, Jérémie ;
  • Al Qureshah, Fahd ;
  • Sabato, Vito ;
  • Alyanakian, Marie-Alexandra ;
  • Leruez-Ville, Marianne ;
  • Rozenberg, Flore ;
  • Haddad, Elie ;
  • Regueiro, Jose ;
  • Toribio, María L. ;
  • Kelsen, Judith R. ;
  • Salehi, Mansoor ;
  • Nasiri, Shahram ;
  • Torabizadeh, Mehdi ;
  • Rokni-Zadeh, Hassan ;
  • Changi-Ashtiani, Majid ;
  • Vatandoost, Nasimeh ;
  • Moravej, Hossein ;
  • Akrami, Seyed Mohammad ;
  • Mazloomrezaei, Mohsen ;
  • Cobat, Aurélie ;
  • Meyts, Isabelle ;
  • Etsushi, Toyofuku ;
  • Nishimura, Madoka ;
  • Moriya, Kunihiko ;
  • Mizukami, Tomoyuki ;
  • Imai, Kohsuke ;
  • Abel, Laurent ;
  • Malissen, Bernard ;
  • Al-Mulla, Fahd ;
  • Alkuraya, Fowzan ;
  • Parvaneh, Nima ;
  • von Bernuth, Horst ;
  • Beetz, Christian ;
  • Davi, Frédéric ;
  • Douek, Daniel C. ;
  • Cheynier, Remi ;
  • Langlais, David ;
  • Landegren, Nils ;
  • Marr, Nico ;
  • Morio, Tomohiro ;
  • Shahrooei, Mohammad ;
  • Schrijvers, Rik ;
  • Henrickson, Sarah ;
  • Luche, Hervé ;
  • Notarangelo, Luigi ;
  • Casanova, Jean-Laurent ;
  • Beziat, Vivien
1 Citation0 Mentions77% FAIR2.0 Dataset Index
10.5061/dryad.9zw3r22m8February 2024