A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining

Mirjam van der Burg, Hanna IJspeert, Nicole S. Verkaik, +9

Journal of Clinical Investigation

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts

Rastislav Horos, Hanna IJspeert, Dagmar Pospı́šilová, +8

Blood

Adaptive antibody diversification through <i>N</i> -linked glycosylation of the immunoglobulin variable region

Fleur S. van de Bovenkamp, Ninotska I. L. Derksen, Pleuni Ooijevaar‐de Heer, +15

Proceedings of the National Academy of Sciences

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

Gertjan J. Driessen, Hanna IJspeert, Corry M.R. Weemaes, +11

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyImmunogeneticsAutoimmune DiseaseSclerodermaImmunodeficiencies +12

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

Taco W. Kuijpers, Hanna IJspeert, Ester M. M. van Leeuwen, +5

Blood

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

Jennie Murray, Mirjam van der Burg, Hanna IJspeert, +19

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsMolecular GeneticsMedicine

Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity

Laurène Pfajfer, Nina K. Mair, Raúl Jiménez Heredia, +16

Journal of Allergy and Clinical Immunology

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

Hanna IJspeert, Gertjan J. Driessen, Michael Moorhouse, +13

Journal of Allergy and Clinical Immunology

HistocompatibilityDifferent Clinical PhenotypesImmunogeneticsAutoimmune DiseaseImmunodeficiencies +10

Human IgG2‐ and IgG4‐expressing memory B cells display enhanced molecular and phenotypic signs of maturity and accumulate with age

Britt G. de Jong, Hanna IJspeert, Lemelinda Marques, +4

Immunology and Cell Biology

A germline STAT6 gain-of-function variant is associated with early-onset allergies

Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, +20

Journal of Allergy and Clinical Immunology

AsthmaAllergyAllergy MedicineGeneticsPathogenesis +8