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Patients with neutropenia may have extremely low levels of circulating neutrophils and suffer from recurring sometimes life\u2010threatening bacterial infections. Sepsis is not infrequent, may occur unexpectedly in a patient with no history for pronounced bacterial infections and may lead to death. The reduced level of circulating neutrophils suggests either a reduced production of myeloid cells in the bone marrow and premature apoptosis or aberrant clearance of neutrophils in peripheral blood. The underlying molecular defects are truncation, deletion or substitution mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>TAZ<\/jats:italic><\/jats:styled-content> gene that appear to result in loss\u2010of\u2010function of the gene product tafazzin. Molecular mechanisms triggering neutropenia and cardiomyopathy in <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> remain largely unclear. The current review focusses on recent advances in the understanding of molecular and cellular bases of neutropenia in Barth syndrome and covers the functional implications of the <jats:styled-content style=\"fixed-case\"><jats:italic>TAZ<\/jats:italic><\/jats:styled-content> mutations, experimental models for neutropenia, the specific cellular abnormalities triggered by loss of <jats:styled-content style=\"fixed-case\"><jats:italic>TAZ<\/jats:italic><\/jats:styled-content> function and potential novel therapeutic strategies for restoring the normal phenotype.<\/jats:p>","DOI":"10.1111\/bjh.12271","type":"journal-article","created":{"date-parts":[[2013,2,25]],"date-time":"2013-02-25T09:15:22Z","timestamp":1361783722000},"page":"330-338","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Advances in the understanding of <scp>B<\/scp>arth syndrome"],"prefix":"10.1111","volume":"161","author":[{"given":"Andranik A.","family":"Aprikyan","sequence":"first","affiliation":[{"name":"Institute for Nanotechnology and Stem Cell Biology Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaza","family":"Khuchua","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cardiovascular Biology Cincinnati Children's Research Foundation Cincinnati OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700480"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2008.12.001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.171439"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900135"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.1.147"},{"key":"e_1_2_8_7_1","first-page":"1771","article-title":"Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. 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