Aleksandra Szczawinska-Poplonyk
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Explore the profile of Aleksandra Szczawinska-Poplonyk including associated specialties, affiliations and a list of published articles.
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38
Citations
193
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Recent Articles
1.
Szczawinska-Poplonyk A, Poplonyk N, Awdi K
Children (Basel)
. 2024 Oct;
11(10).
PMID: 39457216
The multisystemic features of Down syndrome (DS) in children are accompanied by immunodeficiency, making them susceptible to infections and immune dysregulation with autoimmune, allergic, inflammatory, and hematological complications. This study...
2.
Szczawinska-Poplonyk A, Ciesielska W, Konarczak M, Opanowski J, Orska A, Wroblewska J, et al.
Int J Mol Sci
. 2024 Sep;
25(18).
PMID: 39337487
Common variable immunodeficiency (CVID) is the most common symptomatic antibody deficiency, characterized by heterogeneous genetic, immunological, and clinical phenotypes. It is no longer conceived as a sole disease but as...
3.
Szczawinska-Poplonyk A, Poplonyk N, Badura-Stronka M, Juengling J, Huhn K, Biskup S, et al.
Front Genet
. 2023 Jun;
14:1108852.
PMID: 37347054
The (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle...
4.
Szczawinska-Poplonyk A, Schwartzmann E, Chmara Z, Glukowska A, Krysa T, Majchrzycki M, et al.
Int J Mol Sci
. 2023 May;
24(9).
PMID: 37176024
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital...
5.
Czarny J, Andrzejewska M, Zajac-Spychala O, Latos-Grazynska E, Pastorczak A, Wypyszczak K, et al.
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36674612
Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a...
6.
Szczawinska-Poplonyk A, Tapolska-Jozwiak K, Schwartzmann E, Pietrucha B
Front Pediatr
. 2022 Nov;
10:972952.
PMID: 36340711
Ataxia-telangiectasia (A-T) is a severe syndromic neurodegenerative inborn error of immunity characterized by DNA reparation defect, chromosomal instability, and hypersensitivity to ionizing radiation, thereby predisposing affected individuals to malignant transformation....
7.
Szczawinska-Poplonyk A, Poplonyk N, Niedziela M, Sowinska-Seidler A, Sztromwasser P, Jamsheer A, et al.
Front Pediatr
. 2022 Oct;
10:990111.
PMID: 36313893
Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding...
8.
Koltan S, Zietkiewicz M, Grzesk E, Becht R, Berdej-Szczot E, Cienkusz M, et al.
Front Immunol
. 2022 Oct;
13:953700.
PMID: 36211407
At the beginning of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic, patients with inborn errors of immunity (IEI) appeared to be particularly vulnerable to a severe course of...
9.
Jonczyk-Potoczna K, Potoczny J, Szczawinska-Poplonyk A
Front Pediatr
. 2022 Oct;
10:988645.
PMID: 36186632
Ataxia-telangiectasia (A-T) is a syndromic inborn error of immunity (IEI) characterized by genomic instability, defective reparation of the DNA double-strand breaks, and hypersensitivity to ionizing radiation disturbing cellular homeostasis. The...
10.
Szczawinska-Poplonyk A, Bernat-Sitarz K, Schwartzmann E, Piechota M, Badura-Stronka M
Allergol Immunopathol (Madr)
. 2022 Jul;
50(4):1-9.
PMID: 35789397
Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase () gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of phosphoinositide--3-kinase δ (PI3Kδ) cause the activated PI3K δ...