{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:31:32Z","timestamp":1792110692497,"version":"4.4.0"},"reference-count":21,"publisher":"American Society of Hematology","issue":"10","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,9,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The human syndrome of dendritic cell, monocyte, B and natural killer lymphoid deficiency presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial and other infections, predisposition to myelodysplasia and leukemia, and, in some cases, pulmonary alveolar proteinosis. Seeking a genetic cause, we sequenced the exomes of 4 unrelated persons, 3 with sporadic disease, looking for novel, heterozygous, and probably deleterious variants. A number of genes harbored novel variants in person, but only one gene, GATA2, was mutated in all 4 persons. Each person harbored a different mutation, but all were predicted to be highly deleterious and to cause loss or mutation of the C-terminal zinc finger domain. Because GATA2 is the only common mutated gene in 4 unrelated persons, it is highly probable to be the cause of dendritic cell, monocyte, B, and natural killer lymphoid deficiency. This disorder therefore constitutes a new genetic form of heritable immunodeficiency and leukemic transformation.<\/jats:p>","DOI":"10.1182\/blood-2011-06-360313","type":"journal-article","created":{"date-parts":[[2011,7,16]],"date-time":"2011-07-16T02:24:13Z","timestamp":1310783053000},"page":"2656-2658","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":394,"title":["Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency"],"prefix":"10.1182","volume":"118","author":[{"given":"Rachel Emma","family":"Dickinson","sequence":"first","affiliation":[{"name":"Institute of Cellular Medicine and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Griffin","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United 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