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Stacey Rylaarsdam

Explore the profile of Stacey Rylaarsdam including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 291
Followers 0
Related Specialties
Allergy & Immunology
General Medicine
Top 10 Co-Authors
Troy R Torgerson
Hans D Ochs
Ellen D Renner
Bernd H Belohradsky
Lena F Schimke
Eric J Allenspach
David J Rawlings
Gundula Notheis
Janine Reichenbach
Stephanie Anover-Sombke
Published In
J Allergy Clin Immunol
J Clin Immunol
N Engl J Med
Clin Immunol
Affiliations
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Recent Articles
1.
Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells
Thouvenel C, Tipton C, Yamazaki Y, Zhang T, Rylaarsdam S, Hom J, et al.
J Clin Immunol . 2025 Jan; 45(1):66. PMID: 39812873
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants...
2.
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
DeLa Cruz P, Rylaarsdam S, Torgerson T, Hagin D, Allenspach E
J Clin Immunol . 2023 Jul; 43(8):1747-1750. PMID: 37481508
No abstract available.
3.
Class Switch Recombination Defects: impact on B cell maturation and antibody responses
Renner E, Kratz C, Orange J, Hagl B, Rylaarsdam S, Notheis G, et al.
Clin Immunol . 2020 Dec; 222:108638. PMID: 33276124
To assess how B cell phenotype analysis correlates with antigen responses in patients with class switch recombination defects (CSRD) we quantified memory B cells by flow-cytometry and immunized CSRD patients...
4.
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy
Schimke L, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, et al.
J Clin Immunol . 2013 May; 33(6):1088-99. PMID: 23708964
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...
5.
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation
Meyer-Bahlburg A, Renner E, Rylaarsdam S, Reichenbach J, Schimke L, Marks A, et al.
J Allergy Clin Immunol . 2011 Oct; 129(2):559-62, 562.e1-2. PMID: 22030463
No abstract available.
6.
Comèl-Netherton syndrome defined as primary immunodeficiency
Renner E, Hartl D, Rylaarsdam S, Young M, Monaco-Shawver L, Kleiner G, et al.
J Allergy Clin Immunol . 2009 Aug; 124(3):536-43. PMID: 19683336
Background: 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,...
7.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner E, Rylaarsdam S, Anover-Sombke S, Rack A, Reichenbach J, Carey J, et al.
J Allergy Clin Immunol . 2008 Jul; 122(1):181-7. PMID: 18602572
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...
8.
STAT3 mutation in the original patient with Job's syndrome
Renner E, Torgerson T, Rylaarsdam S, Anover-Sombke S, Golob K, LaFlam T, et al.
N Engl J Med . 2007 Oct; 357(16):1667-8. PMID: 17942886
No abstract available.