Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

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dc.contributor.authorAkarcan, Sanem Eren
dc.contributor.authorSevercan, Ezgi Ulusoy
dc.contributor.authorKaraca, Neslihan Edeer
dc.contributor.authorIsik, Esra
dc.contributor.authorAksu, Guzide
dc.contributor.authorMigaud, Melanie
dc.contributor.authorGurkan, Ferda Evin
dc.contributor.authorAzarsiz, Elif
dc.contributor.authorPuel, Anne
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T11:19:36Z
dc.date.available2019-10-27T11:19:36Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractChronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections. Patients with STAT1GOFmutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading tomorbidity andmortality develops. This case is presented to prompt clinicians to consider STAT1GOFmutations in the differential diagnosis of patientswith chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.en_US
dc.identifier.doi10.1155/2017/2846928en_US
dc.identifier.issn2090-6609
dc.identifier.issn2090-6617
dc.identifier.pmid29259832en_US
dc.identifier.urihttps://doi.org/10.1155/2017/2846928
dc.identifier.urihttps://hdl.handle.net/11454/32800
dc.identifier.wosWOS:000415059900001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherHindawi Ltden_US
dc.relation.ispartofCase Reports in Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleGain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficienciesen_US
dc.typeArticleen_US

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