Presentation
Contact
Sven Kracker is a Research Director at CNRS whose work focuses on elucidating the molecular mechanisms underlying primary antibody deficiencies. His research combines phenotypic, functional, and genetic approaches to uncover disease causing pathways and identify novel therapeutic targets. He has contributed to defining several genetic etiologies, including gain- and loss-of-function mutations in PIK3CD and PIK3R1 that lead to hyperactive PI3Kδ signaling. More recently, his team has investigated the role of IRF4, a key transcription factor in B-cell differentiation, in immune dysregulation and immunodeficiency. His projects are supported by French national research programs and major charitable foundations.
Resources & publications
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Journal (source)J Allergy Clin Immunol. 2018Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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Journal (source)Science ImmunologyA multimorphic mutation in IRF4 causes human autosomal dominant combined immu...
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2021Journal (source)J Allergy Clin ImmunolImproving the diagnostic efficiency of primary immunodeficiencies with target...
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2018Journal (source)Front ImmunolDisease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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2020Journal (source)J PediatrFrom Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2020Journal (source)BloodTopoisomerase 2β mutation impairs early B-cell development.
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2017Journal (source)J Allergy Clin ImmunolClinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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2018Journal (source)Front ImmunolDisease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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2021Journal (source)J Allergy Clin ImmunolImproving the diagnostic efficiency of primary immunodeficiencies with target...
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2019Journal (source)J. Clin. Invest.Loss of ARHGEF1 causes a human primary antibody deficiency.
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2020Journal (source)J ImmunolSeletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...
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2019Journal (source)J. Exp. Med.Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr...
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2020Journal (source)J. Pediatr.From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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Journal (source)J. Allergy Clin. Immunol.X-linked primary immunodeficiency associated with hemizygous mutations in the...
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2015Journal (source)J. Clin. Invest.A human immunodeficiency caused by mutations in the PIK3R1 gene.
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Journal (source)J. Allergy Clin. Immunol. 2017Clinical and immunologic phenotype associated with activated phosphoinositide...
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2018Journal (source)HaematologicaMutations in the adaptor-binding domain and associated linker region of p110δ...