article_metadata: Franz-Martin Fink Reinhard Höpfl Martina Witsch-Baumgartner Gabriele Kropshofer Sabine Martin Valentin Fink Maximilian Heeg Christina Peters Johannes Zschocke Oskar A Haas
article_metadata: 10.3389/fimmu.2024.1430938
article_metadata: Front Immunol
article_metadata: 2024 Jul 24:15:1430938.
article_metadata: stat1 chronic mucocutaneous candidiasis (cmc) gain-of-function pathogenic variant severe aplastic anemia (saa) transplantation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39114664/
article_metadata: Anemia, Aplastic / genetics Candidiasis, Chronic Mucocutaneous / genetics STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism
article_metadata: Anemia, Aplastic / genetics Candidiasis, Chronic Mucocutaneous / genetics STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism Case Reports Review Adult Cord Blood Stem Cell Transplantation Female Humans Male Pedigree Retrospective Studies STAT1 protein, human STAT1 Transcription Factor
article_metadata: PMC11303233
article_metadata: 39114664
article_metadata: Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background
article_metadata: 2024