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Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
Železnik M, Soltirovska Šalamon A, Debeljak M, Goropevšek A, Šuštar N, Ključevšek D, Ihan A, Avčin T. Železnik M, et al. Among authors: debeljak m. Front Immunol. 2023 Jan 4;13:1033513. doi: 10.3389/fimmu.2022.1033513. eCollection 2022. Front Immunol. 2023. PMID: 36685504 Free PMC article.
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Lampret BR, Murko S, Debeljak M, Tansek MZ, Fister P, Battelino T. Lampret BR, et al. Among authors: debeljak m. Biochem Med (Zagreb). 2015 Jun 5;25(2):279-84. doi: 10.11613/BM.2015.029. eCollection 2015. Biochem Med (Zagreb). 2015. PMID: 26110041 Free PMC article.
119 results