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BMJ Case Rep ; 13(12)2020 Dec 21.
Article in English | MEDLINE | ID: mdl-33370941

ABSTRACT

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.


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