Marie-claude Stolzenberg
Paris, France
Last Updated: 09/26/2026
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Found 35 publications
FOXP3 deep intronic variant underlying IPEX.
Journal: Journal of human immunity
Published: February 14, 2026
An unusual case of RIPK1-related immunodeficiency: The importance of a timely diagnosis for a novel clinical and therapeutic pattern.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: October 01, 2025
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Journal: EMBO molecular medicine
Published: April 09, 2025
Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.
Journal: Gastro hep advances
Published: April 04, 2025
Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity.
Journal: American journal of hematology
Published: January 13, 2025
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Journal: Journal of clinical immunology
Published: June 25, 2024
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Journal: The Journal of experimental medicine
Published: May 14, 2024
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Journal: The Journal of experimental medicine
Published: December 18, 2023
Loss of function of XBP1 splicing activity of IRE1α favors B cell tolerance breakdown.
Journal: Journal of autoimmunity
Published: July 06, 2023
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Journal: The Journal of allergy and clinical immunology
Published: March 23, 2023
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Journal: Blood
Published: October 11, 2022
Last Updated: 09/26/2026