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@article{1320507,
author = {Svobodova, Tamara and Mejstrikova, Ester and Salzer, Ulrich and Sukova, Martina and Hubacek, Petr and Matej, Radoslav and Vasakova, Martina and Hornofova, Ludmila and Dvorakova, Marcela and Fronkova, Eva and Votava, Felix and Freiberger, Tomáš and Pohunek, Petr and Stary, Jan and Janda, Ales},
article_location = {London},
article_number = {february},
doi = {http://dx.doi.org/10.1186/s12890-015-0006-2},
keywords = {Primary immunodeficiency; GATA-2 deficiency; Diffuse parenchymal lung disease; EBV Viremia; Childhood},
language = {eng},
issn = {1471-2466},
journal = {BMC Pulmonary Medicine},
title = {Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood},
url = {http://www.biomedcentral.com/content/pdf/s12890-015-0006-2.pdf},
volume = {15},
year = {2015}
}
TY - JOUR
ID - 1320507
AU - Svobodova, Tamara - Mejstrikova, Ester - Salzer, Ulrich - Sukova, Martina - Hubacek, Petr - Matej, Radoslav - Vasakova, Martina - Hornofova, Ludmila - Dvorakova, Marcela - Fronkova, Eva - Votava, Felix - Freiberger, Tomáš - Pohunek, Petr - Stary, Jan - Janda, Ales
PY - 2015
TI - Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
JF - BMC Pulmonary Medicine
VL - 15
IS - february
SP - 1-7
EP - 1-7
PB - Biomed Central LTD
SN - 14712466
KW - Primary immunodeficiency
KW - GATA-2 deficiency
KW - Diffuse parenchymal lung disease
KW - EBV Viremia
KW - Childhood
UR - http://www.biomedcentral.com/content/pdf/s12890-015-0006-2.pdf
N2 - 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.
ER -
SVOBODOVA, Tamara, Ester MEJSTRIKOVA, Ulrich SALZER, Martina SUKOVA, Petr HUBACEK, Radoslav MATEJ, Martina VASAKOVA, Ludmila HORNOFOVA, Marcela DVORAKOVA, Eva FRONKOVA, Felix VOTAVA, Tomáš FREIBERGER, Petr POHUNEK, Jan STARY and Ales JANDA. Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. \textit{BMC Pulmonary Medicine}. London: Biomed Central LTD, 2015, vol.~15, february, p.~1-7. ISSN~1471-2466. Available from: https://dx.doi.org/10.1186/s12890-015-0006-2.
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