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

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@article{2683e431194d44019387953a82442e41,
title = "Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome",
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.",
keywords = "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",
author = "Jensen, {Marie Louise Naestholt} and Mathiasen, {Victor Dahl} and Marinne Ifversen and Nielsen, {Jeppe Sylvest Angaard}",
note = "{\textcopyright} BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.",
year = "2020",
month = dec,
day = "21",
doi = "10.1136/bcr-2020-236521",
language = "English",
volume = "13",
pages = "e236521",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "B M J Group",
number = "12",

}

RIS

TY - JOUR

T1 - Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome

AU - Jensen, Marie Louise Naestholt

AU - Mathiasen, Victor Dahl

AU - Ifversen, Marinne

AU - Nielsen, Jeppe Sylvest Angaard

N1 - © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2020/12/21

Y1 - 2020/12/21

N2 - 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.

AB - 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.

KW - Amputation

KW - Anti-Bacterial Agents/therapeutic use

KW - Antiviral Agents/therapeutic use

KW - Child

KW - Codon, Nonsense

KW - DNA Mutational Analysis

KW - Drug Therapy, Combination

KW - Female

KW - Fingers/pathology

KW - GATA2 Deficiency/complications

KW - GATA2 Transcription Factor/deficiency

KW - Gangrene/immunology

KW - Glucocorticoids/therapeutic use

KW - Hematopoietic Stem Cell Transplantation

KW - Humans

KW - Influenza A virus/immunology

KW - Influenza, Human/complications

KW - Lung/diagnostic imaging

KW - Respiration, Artificial

KW - Respiratory Distress Syndrome/diagnosis

KW - Severity of Illness Index

KW - Tomography, X-Ray Computed

U2 - 10.1136/bcr-2020-236521

DO - 10.1136/bcr-2020-236521

M3 - Journal article

C2 - 33370941

VL - 13

SP - e236521

JO - BMJ Case Reports

JF - BMJ Case Reports

SN - 1757-790X

IS - 12

ER -

ID: 62402384