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01.12.2015 | Case report | Ausgabe 1/2015 Open Access

BMC Pulmonary Medicine 1/2015

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

BMC Pulmonary Medicine > Ausgabe 1/2015
Tamara Svobodova, Ester Mejstrikova, Ulrich Salzer, Martina Sukova, Petr Hubacek, Radoslav Matej, Martina Vasakova, Ludmila Hornofova, Marcela Dvorakova, Eva Fronkova, Felix Votava, Tomas Freiberger, Petr Pohunek, Jan Stary, Ales Janda
Wichtige Hinweise

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

TS identified the patient and drafted the manuscript. EM acquired and analysed the flow cytometry data and revised the manuscript. US and TF acquired and analysed the genetic data and revised the manuscript. MS analysed and interpreted the clinical and laboratory data and revised the manuscript. PH acquired and analysed the virology data and revised the manuscript. RM, MV and LH acquired and analysed data on pulmonary tissue pathology and revised the manuscript. MD acquired and analysed the radiology data and revised the manuscript. EF and FV analysed the KREC/TREC data and revised the manuscript. PP acquired and analysed the pulmonary function tests and revised the manuscript. JS provided supervision, analysed the clinical data and revised the manuscript. AJ is the corresponding author, he initiated the study and wrote the manuscript. All authors read and approved the manuscript.



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.


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.
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