Joris M. van Montfrans

Gut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Evaluation and Management of Deficiency of Adenosine Deaminase 2

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

Development of a primary care screening algorithm for the early detection of patients at risk of primary antibody deficiency

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency

Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies