Marie-Claude Stolzenberg

5PUBLICATIONS
82CO-AUTHORS
Genetic immunologyImmunogenetics (incl. genetic immunology)Epigenetics (incl. genome methylation and epigenomics)Biologically active molecules
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Publications (5)

|Jul 30, 2026
FOXP3 deep intronic variant underlying IPEX.

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

Quentin Riller, Boris Sorin, Charline Courteille

|Jul 19, 2024
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

Marie Jeanpierre, Jade Cognard, Maud Tusseau

|May 27, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.

Quentin Riller, Boris Sorin, Charline Courteille

|Mar 23, 2023
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.

Charlotte Boussard, Laure Delage, Tania Gajardo

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Frequent Collaborators

5 joint publications

Frédéric Rieux-Laucat

4 joint publications

Capucine Picard

4 joint publications

Quentin Riller

3 joint publications

Laure Delage