Biblio
Activation of gp130 signaling in T cells drives T17-mediated multi-organ autoimmunity. Sci Signal. 2024;17(824):eadc9662.
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. J Allergy Clin Immunol. 2021.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024;11(2):e114-e126.
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Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. J Allergy Clin Immunol. 2023.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study. J Allergy Clin Immunol. 2023.
Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development. EBioMedicine. 2020;59:102961.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. J Allergy Clin Immunol. 2021.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity. J Allergy Clin Immunol. 2021.
Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis. Blood Adv. 2020;4(9):1998-2010.
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations. J Clin Immunol. 2024;44(6):129.
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