China
Africa
Explore chapters and articles related to this topic
GATA2 Deficiency
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
GATA2 deficiency displays high (>90%) penetrance and variable expressivity. Despite their shared genetic background (all with inactivating GATA2 mutations), diseases grouped under GATA2 deficiency (i.e., MonoMAC syndrome, Emberger syndrome, familial MDS/AML, DCML, NK cell deficiency, CMML, aplastic anemia, and chronic neutropenia) each shows a specific constellation of signs and symptoms. In addition, individuals with identical GATA2 gene mutations may exhibit vastly different presentations.
Lymphoedema – pathology and clinical features
Published in Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland, Manual of Venous and Lymphatic Diseases, 2017
Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland
Emberger syndrome is childhood-onset lymphoedema. It is associated with congenital deafness, neck webbing and generalized warts, and it usually precedes acute myeloid leukemia. Children with lower limb and genital lymphoedema should be screened for haematological abnormalities.
When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis
Published in Pediatric Hematology and Oncology, 2021
F. Saettini, T. Coliva, F. Vendemini, D. Moratto, G. Savoldi, E. Borlenghi, R. Masetti, C. M. Niemeyer, A. Biondi, A. Balduzzi, S. Bonanomi
Heterozygous GATA2 variants cause a highly heterogeneous disorder encompassing myelodysplasia (MDS), acute myeloid leukemia (AML), infection susceptibility, immunodeficiency, pulmonary dysfunction and lymphoedema (ie, Emberger syndrome).1 Although pediatric patients may display incomplete phenotype, they often present with peripheral blood abnormalities, such as leuko-neutropenia, and decreased B-cells, NK-cells, monocytes and dendritic cells (DCs). Here we report a case series of five pediatric patients presenting with heterogeneous hematological phenotypes suggestive of GATA2 deficiency. It was only after careful medical history analysis, complete blood count (CBC) monitoring and immunophenotyping that we suspected GATA2 deficiency. Remarkably, in two of these patients we identified two novel variants.
GATA2-related myeloid neoplasms in pediatrics: where do we stand?
Published in Pediatric Hematology and Oncology, 2022
Manuela Spadea, Paola Quarello, Francesco Saglio, Lucia Pedace, Franca Fagioli
Notably, four clinical phenotypes due to GATA2 mutations have been described: Emberger syndrome (lymphedema and monosomy 7), MonoMAC syndrome (monocytopenia and Mycobacterium avium complex infection), dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency (DCML), and familial MDS/AML.8–10 Patients with GATA2-related disease present early in life with symptoms that affect the hematopoietic, immune, lymphatic systems and that are complicated by systemic infections.11 Later in life, these patients have a high risk of developing MDS/AML. Interestingly, a recent study concerning pediatric patients showed that GATA2 germline mutations underlie 7% of pediatric cases with primary MDS, and 15% of advanced MDS.6
Germ line predisposition to myeloid malignancies appearing in adulthood
Published in Expert Review of Hematology, 2018
Martina Crysandt, Kira Brings, Fabian Beier, Christian Thiede, Tim H Brümmendorf, Edgar Jost
Emberger syndrome is also inherited in an autosomal dominant way. On the hematological level, patients have a predisposition for the development of MDS or AML and a lower CD4/CD8 ratio. The patients present with lymphedema of lower extremities, cutaneous warts, and deafness [9].