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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Szczawińska-Popłonyk A, Popłonyk N, Badura-Stronka M, Juengling J, Huhn K, Biskup S, Bancerz B, Walkowiak J. Szczawińska-Popłonyk A, et al. Front Genet. 2023 Jun 6;14:1108852. doi: 10.3389/fgene.2023.1108852. eCollection 2023. Front Genet. 2023. PMID: 37347054 Free PMC article.
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.
Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, Langfort R. Szczawinska-Poplonyk A, et al. Viral Immunol. 2011 Dec;24(6):471-3. doi: 10.1089/vim.2011.0034. Epub 2011 Nov 23. Viral Immunol. 2011. PMID: 22111599
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Szczawinska-Poplonyk A, Begier K, Dorota A, Dabrowska M, Galecka D, Wawrzeniak K, Wroblewski K. Szczawinska-Poplonyk A, et al. Allergol Immunopathol (Madr). 2021 Jul 1;49(4):117-136. doi: 10.15586/aei.v49i4.200. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 34224226 Review.
39 results