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

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 hos...

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Bibliographic Details
Published in:BMJ case reports 2020-12, Vol.13 (12), p.e236521
Main Authors: Jensen, Marie Louise Naestholt, Mathiasen, Victor Dahl, Ifversen, Marinne, Nielsen, Jeppe Sylvest Angaard
Format: Article
Language:English
Subjects:
Amputation, Surgical
Anti-Bacterial Agents - therapeutic use
Antibiotics
Antiviral Agents - therapeutic use
Blood
Case Report
Case reports
Catheters
Child
Codon, Nonsense
DNA Mutational Analysis
Drug Therapy, Combination
Female
Fingers - pathology
Fingers - surgery
Gangrene - immunology
Gangrene - surgery
GATA2 Deficiency - complications
GATA2 Deficiency - diagnosis
GATA2 Deficiency - genetics
GATA2 Deficiency - immunology
GATA2 Transcription Factor - deficiency
GATA2 Transcription Factor - genetics
Glucocorticoids - therapeutic use
Hematopoietic Stem Cell Transplantation
Hemoglobin
Humans
Immunoglobulins
Infections
Influenza
Influenza A virus - immunology
Influenza A virus - isolation & purification
Influenza, Human - complications
Influenza, Human - immunology
Influenza, Human - therapy
Influenza, Human - virology
Intensive care
Leukemia
Lung - diagnostic imaging
Lung - immunology
Lymphedema
Microorganisms
Mutation
Neutrophils
Pediatrics
Pneumonia
Respiration, Artificial
Respiratory Distress Syndrome - diagnosis
Respiratory Distress Syndrome - immunology
Respiratory Distress Syndrome - therapy
Respiratory failure
Severity of Illness Index
Surgeons
Tomography, X-Ray Computed
Veins & arteries
Ventilators
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Description
Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2020-236521