Cecile Masson

12PUBLICATIONS
251CO-AUTHORS
Genetic immunologyAllergyGene and molecular therapyCardiovascular medicine and haematology not elsewhere classifiedImmunogenetics (incl. genetic immunology)
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Publications (12)

|May 08, 2026
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

|Mar 10, 2026
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

Clémence David, Tifenn Wauquier, Alix de Becdelièvre

|Nov 26, 2025
Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.

Giulia Hardouin, Pierre Martinucci, Samantha Scaramuzza

|Mar 16, 2025
The neutrophil antigen 3a/b polymorphism in SLC44A2 unexpectedly encodes the Csa/Csb red cell antigens.

Romain Duval, Alissa Soudry, Jonathan De Oliveira Rios

|Jan 15, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

Quentin Riller, Boris Sorin, Charline Courteille

|Jun 26, 2024
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.

Simon Perrin, Sanela Protic, Vincent Bretegnier

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Frequent Collaborators

4 joint publications

Jean-Laurent Casanova

3 joint publications

Capucine Picard

3 joint publications

Anne Puel

2 joint publications

Giulia Hardouin