Publications by authors named "Stacey Rylaarsdam"
Article Synopsis
- The study investigates how B cell characteristics relate to immune responses in patients with class switch recombination defects (CSRD) by analyzing memory B cells using flow cytometry after immunization with a specific neoantigen, bacteriophage phiX174.
- Results indicated that CSRD patients had very few or no switched memory B cells, with variations in memory B cell profiles noted across different patient groups (CD40L, NEMO, AID).
- The research found reduced antibody responses to the phage in patients with various CSRD, highlighting a connection between specific B-cell phenotypes and abnormal immune responses, which could help identify CSRD patients effectively.
Purpose: This study reports the identification of a novel heterozygous IKBA missense mutation (p.M37K) in a boy presenting with ectodermal dysplasia with immunodeficiency (EDA-ID) who had wild type IKBKG gene encoding NEMO. Our aim was to characterize the clinical course of this IκB-α gain-of-function mutant and to investigate if the p.
View Article and Find Full Text PDFBackground: Mutations in serine protease inhibitor Kazal-type 5 (SPINK5), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related inhibitor (LEKTI), cause Comèl-Netherton syndrome, an autosomal-recessive disease characterized by congenital ichthyosis, bamboo hair, and atopic diathesis. Despite increased frequency of infections, the immunocompetence of patients with Comèl-Netherton syndrome has not been extensively investigated.
Objective: To define Comèl-Netherton syndrome as a primary immunodeficiency disorder and to explore the benefit of intravenous immunoglobulin replacement therapy.
Background: Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida infections, and skeletal/connective tissue abnormalities. Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant HIES.
Objective: To determine the spectrum and functional consequences of heterozygous STAT3 mutations in a cohort of patients with HIES.