Despina Moshous

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Late effects after hematopoietic stem cell transplantation in patients with HLH: A Histiocyte Society, PDWP, IEWP, and TCWP EBMT Study

Clinical and functional spectrum of RAC2-related immunodeficiency

Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT

V ₀ -ATPase downregulation induces MVID-like brush border defects independently of apical trafficking in the mammalian intestine

Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations