| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis
|
Aba, Ümran
|
|
|
44 |
2 |
|
artikel
|
| 2 |
A Rare AIOLOS N160S Variant Causing IEI in Human
|
Özdemir, Öner
|
|
|
44 |
2 |
|
artikel
|
| 3 |
Autoantibody-Mediated Depletion of IL-1RA in Still’s Disease and Potential Impact of IL-1 Targeting Therapies
|
Hoffmann, Marie-Christin
|
|
|
44 |
2 |
|
artikel
|
| 4 |
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
|
Patel, Priya K.
|
|
|
44 |
2 |
|
artikel
|
| 5 |
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
|
Mustillo, Peter J.
|
|
|
44 |
2 |
|
artikel
|
| 6 |
“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
|
Olyha, Sam J.
|
|
|
44 |
2 |
|
artikel
|
| 7 |
Epidermodysplasia Verruciformis in CADINS Disease: Expanding the Phenotype
|
Aggarwal, Ridhima
|
|
|
44 |
2 |
|
artikel
|
| 8 |
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19
|
Covill, L. E.
|
|
|
44 |
2 |
|
artikel
|
| 9 |
High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study
|
Villa, Annalisa
|
|
|
44 |
2 |
|
artikel
|
| 10 |
Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis
|
Thomsen, Michelle Mølgaard
|
|
|
44 |
2 |
|
artikel
|
| 11 |
Influence of Splenomegaly and Splenectomy on the Immune Cell Profile of Patients with Common Variable Immunodeficiency Disease
|
Viallard, Jean-François
|
|
|
44 |
2 |
|
artikel
|
| 12 |
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease
|
David, Clémence
|
|
|
44 |
2 |
|
artikel
|
| 13 |
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease
|
Diaz-Cabrera, Natalie M.
|
|
|
44 |
2 |
|
artikel
|
| 14 |
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection
|
Day, W. Grant
|
|
|
44 |
2 |
|
artikel
|
| 15 |
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients
|
Kridli, Nadine
|
|
|
44 |
2 |
|
artikel
|
| 16 |
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease
|
Iyengar, Vaishnavi V.
|
|
|
44 |
2 |
|
artikel
|
| 17 |
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers
|
Palmeri, Serena
|
|
|
44 |
2 |
|
artikel
|
| 18 |
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
|
Garcia-Prat, Marina
|
|
|
44 |
2 |
|
artikel
|
| 19 |
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
|
Coppola, Emma
|
|
|
44 |
2 |
|
artikel
|
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