Multiple Opportunistic Infections in a Woman with GATA2 Mutation

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• 作者：Andrea Vila^a ; ^{santander@arlink.net.ar} ; Juan I. Dapá ; s^a ; Cynthia V. Rivero^a ; Florencia Bocanegra^b ; Roberto F. Furnari^b ; Amy P. Hsu^c ; Steven M. Holland^c
• 关键词：GATA2 mutation ; MonoMAC syndrome ; monocytopenia ; GATA2 deficiency
• 刊名：International Journal of Infectious Diseases
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：54
• 期：Complete
• 页码：89-91
• 全文大小：373 K
• 卷排序：54

文摘

Heterozygous familial or sporadic GATA2 mutation is a genetic disorder, which can express as a wide spectrum of phenotypes including viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukemias, pulmonary alveolar proteinosis, autoimmune phenomena, and lymphedema. Carriers of defective GATA2 alleles develop progressive loss of mononuclear cells (dendritic cells, monocytes, B and NK lymphocytes), which leads to progressive immunodeficiency and susceptibility to severe and recurrent HPV, NTM and fungal infections. Infections are the most frequent initial symptoms of GATA2 mutation in adults, while in children it may present as hematopoietic disorder.