Biblio
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T-cell Deficiencies. Biol Blood Marrow Transplant. 2020.
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.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.
Therapeutic options for CTLA-4 Insufficiency. J Allergy Clin Immunol. 2021.
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.
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. 2023.
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.
[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.