Cargando…

Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review

Monocytopenia and mycobacterial infection (MonoMAC) syndrome is a rare disease. Herein, we reported a 65-year-old Asian woman, previously diagnosed with myelodysplastic syndrome (MDS), suffering from recurrent pneumonia, intermittent fever, fatigue, and chest tightness lasting for five months. She w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shen, Yingying, Li, Yuzhu, Li, Hangchao, Liu, Qi, Dong, Huijie, Wang, Bo, Ye, Baodong, Lin, Shenyun, Shen, Yiping, Wu, Dijiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040071/ https://www.ncbi.nlm.nih.gov/pubmed/33854343 http://dx.doi.org/10.2147/IDR.S305825

Ejemplares similares

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency
por: Ding, Ling-Wen, et al.
Publicado: (2016)

MonoMAC syndrome with GATA2 novel mutation: A case report
por: Belohlavkova, Petra, et al.
Publicado: (2022)

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins
por: West, Robert R., et al.
Publicado: (2023)

GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
por: Mendes-de-Almeida, Daniela Palheiro, et al.
Publicado: (2019)

Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report
por: Haraguchi, Mizuki, et al.
Publicado: (2021)

Arachidonic acid increases matrix metalloproteinase 9 secretion and expression in human monocytic MonoMac 6 cells
por: Solakivi, Tiina, et al.
Publicado: (2009)

Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study
por: Shen, Yingying, et al.
Publicado: (2023)

Bushen Jianpi Quyu Formula Alleviates Myelosuppression of an Immune-Mediated Aplastic Anemia Mouse Model via Inhibiting Expression of the PI3K/AKT/NF-κB Signaling Pathway
por: Li, Hangchao, et al.
Publicado: (2022)

Apolipoprotein-A is a potential prognostic biomarker for severe aplastic anemia patients treated with ATG-based immunosuppressive therapy: a single-center retrospective study
por: Liu, Qi, et al.
Publicado: (2022)

Severe Systemic Rash in the Treatment of Hairy Cell Leukemia with Cladribine: Case Report and Literature Review
por: Dong, Huijie, et al.
Publicado: (2020)

Eltrombopag plus cyclosporine in refractory immune thrombocytopenia: a single-center study
por: Hong, Yilei, et al.
Publicado: (2023)

Acute rhabdomyolysis in hepatitis-associated aplastic anemia patient undergoing allogeneic hematopoietic stem-cell transplantation: case report and literature review
por: Li, Yuzhu, et al.
Publicado: (2022)

GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes
por: Bruzzese, Antonella, et al.
Publicado: (2020)

Comparison of anti-thymocyte globulin-based immunosuppressive therapy and allogeneic hematopoietic stem cell transplantation in patients with transfusion-dependent non-severe aplastic anaemia: a retrospective study from a single centre
por: Shen, Yingying, et al.
Publicado: (2023)

First Report of Severe Autoimmune Hemolytic Anemia During Eltrombopag Therapy in Waldenström Macroglobulinemia-Associated Thrombocytopenia
por: Shen, Yingying, et al.
Publicado: (2021)

Differentiation of Yin, Yang and Stasis Syndromes in Severe Aplastic Anemia Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation and Their Correlation with Iron Metabolism, cAMP/cGMP, 17-OH-CS and Thyroxine
por: Hu, Huijin, et al.
Publicado: (2021)

Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
por: Hahn, Christopher N., et al.
Publicado: (2011)

Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
por: Bortnick, Rachel, et al.
Publicado: (2021)

Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of GATA2 Mutation and Myelodysplastic Syndrome
por: Tabaja, Hussam, et al.
Publicado: (2022)

Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition
por: Baptista, Renata Lyrio Rafael, et al.
Publicado: (2017)

Germline SAMD9 Mutation in Siblings with Monosomy 7 and Myelodysplastic Syndrome
por: Schwartz, Jason R., et al.
Publicado: (2017)

A Rare Case of Myelodysplastic Syndrome with Refractory Thrombocytopenia
por: Jehangir, Waqas, et al.
Publicado: (2015)

In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies
por: van Engelen, Nienke, et al.
Publicado: (2022)

P04-33. Mechanisms of HIV-1 antibody mediated inhibition in Monomac-1 and MDM
por: Fischetti, L, et al.
Publicado: (2009)

Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
por: Doubková, Martina, et al.
Publicado: (2023)

Myelodysplastic syndromes
por: Hellström Lindberg, Eva
Publicado: (2018)

ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant
por: Qu, Shiqiang, et al.
Publicado: (2022)

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome
por: West, Robert R., et al.
Publicado: (2022)

Spotlight on decitabine for myelodysplastic syndromes in Chinese patients
por: Jing, Yu, et al.
Publicado: (2015)

Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome
por: Májek, Pavel, et al.
Publicado: (2013)

Membranous glomerulonephritis in a patient with myelodysplastic syndrome-refractory cytopenia with multilineage dysplasia
por: Ko, Kwang Il, et al.
Publicado: (2013)

Myelodysplastic syndromes and overlap syndromes
por: Chang, Yoon Hwan
Publicado: (2021)

Angiogenesis in myelodysplastic syndromes
por: Pruneri, G, et al.
Publicado: (1999)

Myelodysplastic Syndromes and Metabolism
por: Balaian, Ekaterina, et al.
Publicado: (2021)

Genetics of Myelodysplastic Syndromes
por: Saygin, Caner, et al.
Publicado: (2021)

Bullous Pemphigoid in an Elderly Patient with Myelodysplastic Syndrome and Refractory Anemia Coupled with Excess of Blast
por: Lee, Yin Yin, et al.
Publicado: (2011)

Successful treatment with bortezomib for refractory fever associated with myelodysplastic syndrome with underlying lymphoplasmacytic lymphoma
por: Motomura, Yotaro, et al.
Publicado: (2022)

Oral eltanexor treatment of patients with higher-risk myelodysplastic syndrome refractory to hypomethylating agents
por: Lee, Sangmin, et al.
Publicado: (2022)

Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome
por: Merrill, Andrea L., et al.
Publicado: (2011)

JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia
por: Jekarl, Dong Wook, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_f29suvtmto8socqr7attmic6sb