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Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome

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A 9-year-old girl was admitted to the paediatric intensive care unit with acute respiratory failure due to influenza. Nine months earlier, she presented with unexplained lymphoedema of the lower extremities and monocytopenia. She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndrome caused by GATA2 deficiency. The admission was complicated by thromboses in the right hand, leading to amputation of multiple fingers. From then on, the patient has been in good recovery, the function of her right hand was improving and an allogeneic haematopoietic cell transplantation has now been successfully performed.

Original languageEnglish
JournalBMJ Case Reports
Volume13
Issue number12
Pages (from-to)e236521
ISSN1757-790X
DOIs
Publication statusPublished - 21 Dec 2020

    Research areas

  • Amputation, Anti-Bacterial Agents/therapeutic use, Antiviral Agents/therapeutic use, Child, Codon, Nonsense, DNA Mutational Analysis, Drug Therapy, Combination, Female, Fingers/pathology, GATA2 Deficiency/complications, GATA2 Transcription Factor/deficiency, Gangrene/immunology, Glucocorticoids/therapeutic use, Hematopoietic Stem Cell Transplantation, Humans, Influenza A virus/immunology, Influenza, Human/complications, Lung/diagnostic imaging, Respiration, Artificial, Respiratory Distress Syndrome/diagnosis, Severity of Illness Index, Tomography, X-Ray Computed

ID: 62402384