About: Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood

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About: Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
Creator	Dvorakova, Marcela Freiberger, Tomas Fronkova, Eva Hornofova, Ludmila Hubacek, Petr Janda, Ales Matej, Radoslav Mejstrikova, Ester Pohunek, Petr Salzer, Ulrich Stary, Jan Sukova, Martina Svobodova, Tamara Vasakova, Martina Votava, Felix
source	Medline; PMC
abstract	BACKGROUND: GATA-2 transcription factor deficiency has recently been described in patients with a propensity towards myeloid malignancy associated with other highly variable phenotypic features: chronic leukocytopenias (dendritic cell-, monocyto-, granulocyto-, lymphocytopenia), increased susceptibility to infections, lymphatic vasculature abnormalities, and sensorineural deafness. Patients often suffer from opportunistic respiratory infections; chronic pulmonary changes have been found in advanced disease. CASE PRESENTATION: We present a case of a 17-year-old previously healthy Caucasian male who was admitted to the hospital with fever, malaise, headache, cough and dyspnea. A chest X-ray revealed bilateral interstitial infiltrates and pneumonia was diagnosed. Despite prompt clinical improvement under antibiotic therapy, interstitial changes remained stable. A high resolution computer tomography showed severe diffuse parenchymal lung disease, while the patient’s pulmonary function tests were normal and he was asymptomatic. Lung tissue biopsy revealed chronic reparative and resorptive reaction with organizing vasculitis. At the time of the initial presentation to the hospital, serological signs of acute infection with Epstein-Barr virus (EBV) were present; EBV viremia with atypical serological response persisted during two-year follow up. No other infectious agents were found. Marked monocytopenia combined with B-cell lymphopenia led to a suspicion of GATA-2 deficiency. Diagnosis was confirmed by detection of the previously published heterozygous mutation in GATA2 (c.1081 C > T, p.R361C). The patient’s brother and father were both carriers of the same genetic defect. The brother had no clinically relevant ailments despite leukocyte changes similar to the index patient. The father suffered from spondylarthritis, and apart from B-cell lymphopenia, no other changes within the leukocyte pool were seen. CONCLUSION: We conclude that a diagnosis of GATA-2 deficiency should be considered in all patients with diffuse parenchymal lung disease presenting together with leukocytopenia, namely monocyto-, dendritic cell- and B-lymphopenia, irrespective of severity of the clinical phenotype. Genetic counseling and screening for GATA2 mutations within the patient’s family should be provided as the phenotype is highly variable and carriers without apparent immunodeficiency are still in danger of developing myeloid malignancy. A prompt recognition of this rare condition helps to direct clinical treatment strategies and follow-up procedures.
has issue date	2015-02-10(xsd:dateTime)
bibo:doi	10.1186/s12890-015-0006-2
bibo:pmid	25879889
has license	cc-by
sha1sum (hex)	917928bee48f4118e1f14349d4176df8281e9cac
schema:url	https://doi.org/10.1186/s12890-015-0006-2
resource representing a document's title	Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
has PubMed Central identifier	PMC4340788
has PubMed identifier	25879889
schema:publication	BMC Pulm Med
resource representing a document's body	covid:917928bee48f4118e1f14349d4176df8281e9cac#body_text
is schema:about of	named entity 'rare' named entity 'tissue biopsy' named entity 'fever' named entity 'screening' named entity 'high' named entity 'improvement' named entity 'advanced' named entity 'diffuse parenchymal lung disease' named entity 'severe' named entity 'transcription factor' named entity 'carriers' named entity 'diagnosis' named entity 'lymphocytopenia' named entity 'signs' named entity 'Background' named entity 'DIFFUSE' named entity 'GATA2' named entity 'INTERSTITIAL' named entity 'CHANGES' named entity 'EBV VIREMIA' named entity 'CLINICAL PHENOTYPE' named entity 'DEVELOPING' named entity 'DENDRITIC CELL' named entity 'CLINICAL TREATMENT' named entity 'PULMONARY' named entity 'BILATERAL' named entity 'A 17' named entity 'APPARENT' named entity 'SUFFER' named entity 'TO DIRECT' named entity 'MARKED' named entity 'PROMPT' named entity 'PROVIDED' named entity 'HOSPITAL' named entity 'HIGH RESOLUTION' named entity 'DEFICIENCY' named entity 'TRANSCRIPTION FACTOR' named entity 'ACUTE INFECTION' named entity 'CASE' named entity 'SEEN' named entity 'B-CELL LYMPHOPENIA' named entity 'CARRIERS' named entity 'LEUKOCYTOPENIA' named entity 'DISEASE' named entity 'PATIENT' named entity 'AILMENTS' named entity 'STABLE' named entity 'FATHER' named entity 'MYELOID MALIGNANCY' named entity 'MUTATION' named entity 'LYMPHOPENIA' named entity 'LUNG DISEASE' named entity 'GATA-2' named entity 'CHILDHOOD' named entity 'MANIFESTATION OF' named entity 'ATYPICAL' named entity 'RESPONSE' named entity 'BACKGROUND' named entity 'LUNG DISEASE' named entity 'HELPS' named entity 'SEVERE' named entity 'SENSORINEURAL DEAFNESS' named entity 'SPONDYLARTHRITIS' named entity 'MUTATIONS' named entity 'COMPUTER TOMOGRAPHY' named entity 'HEALTHY' named entity 'LED'

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