Biblio
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency. J Allergy Clin Immunol. 2022.
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers. J Clin Immunol. 2023.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature. J Clin Immunol. 2024;44(1):41.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. 2023.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis. Blood. 2022.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes. Blood. 2022.
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia. J Clin Immunol. 2023.
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study. J Allergy Clin Immunol. 2023.
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T-cell Deficiencies. Biol Blood Marrow Transplant. 2020.
[Newborn screening for severe combined immunodeficiencies (SCID) in Germany]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023.
. A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature. J Clin Immunol. 2023;44(1):1.
A novel complete autosomal recessive STAT1 LOF variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammation. J Allergy Clin Immunol Pract. 2020.
Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis. Blood Adv. 2020;4(9):1998-2010.
Therapeutic options for CTLA-4 Insufficiency. J Allergy Clin Immunol. 2021.