Cargando…

Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations

SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) is critical for myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been reported in five children, causing autosomal recessive congenital neutropenia with specific granulocytes deficien...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ibrahim, Abukhiran, Sharathkumar, Anjali, McLaughlin, Heather, Claassen, David, Bhagavathi, Sharathkumar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498992/ https://www.ncbi.nlm.nih.gov/pubmed/36135322 http://dx.doi.org/10.3390/hematolrep14030038

Ejemplares similares

Education Case: Hereditary Thrombophilia With Double Heterozygous Factor V Leiden and Factor II c.*97G>A Mutations
por: Abukhiran, Ibrahim, et al.
Publicado: (2021)

Utilizing digital pathology and immunohistochemistry of p53 as an adjunct to molecular testing in myeloid disorders
por: Rogers, Kai J., et al.
Publicado: (2023)

A Case of Secondary Hemophagocytic Lymphohistiocytosis Presenting with Severe Dyserythropoeisis in a Patient with Autoimmune Hemolysis
por: Rogers, Kai J., et al.
Publicado: (2022)

t(15; 17) associated with primary myelofibrosis: a case report of an unusual clinical presentation and diagnostic dilemma
por: Nadiminti, Kalyan, et al.
Publicado: (2019)

Direct oral anticoagulants in pediatric venous thromboembolism: Review of approved products rivaroxaban and dabigatran
por: Al-Ghafry, Maha, et al.
Publicado: (2022)

Review of Potential Barriers to Effective Hemostatic Management of Acquired Hemophilia A by Non-Hemophilia Experts in the United States
por: Sharathkumar, Anjali, et al.
Publicado: (2023)

Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations
por: Liu, Qiao, et al.
Publicado: (2019)

Primary Raynaud's phenomenon in an infant: a case report and review of literature
por: Sharathkumar, Anjali A, et al.
Publicado: (2011)

How we approach thrombosis risk in children with COVID‐19 infection and MIS‐C
por: Sharathkumar, Anjali A., et al.
Publicado: (2021)

Extranodal marginal zone lymphoma of the dura mater with IgH/MALT1 translocation and review of literature
por: Bhagavathi, Sharathkumar, et al.
Publicado: (2008)

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2
por: Schim van der Loeff, Ina, et al.
Publicado: (2021)

Granulocyte Antibodies in Korean Neonates with Neutropenia
por: Han, Tae Hee, et al.
Publicado: (2006)

COVID-19 outcomes in persons with hemophilia: results from a US-based national COVID-19 surveillance registry
por: Sharathkumar, Anjali, et al.
Publicado: (2023)

SMARCD1 regulates senescence-associated lipid accumulation in hepatocytes
por: Inoue, Chisato, et al.
Publicado: (2017)

LncRNA SMARCD3-OT1 Promotes Muscle Hypertrophy and Fast-Twitch Fiber Transformation via Enhancing SMARCD3X4 Expression
por: Zhang, Jing, et al.
Publicado: (2022)

Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
por: Olcay, Lale, et al.
Publicado: (2018)

SMARCD3 is a potential prognostic marker and therapeutic target in CAFs
por: Jiang, Ming, et al.
Publicado: (2020)

Smarcd3 is an epigenetic modulator of the metabolic landscape in pancreatic ductal adenocarcinoma
por: Ferguson, L. Paige, et al.
Publicado: (2023)

Thrombotic potential during pediatric acute lymphoblastic leukemia induction: Role of cell‐free DNA
por: Kumar, Rahul, et al.
Publicado: (2021)

Prevention of febrile neutropenia: use of granulocyte colony-stimulating factors
por: Kelly, S, et al.
Publicado: (2009)

DNase 1 Protects From Increased Thrombin Generation and Venous Thrombosis During Aging: Cross‐Sectional Study in Mice and Humans
por: Kumar, Rahul, et al.
Publicado: (2022)

RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia
por: Olofsen, Patricia A., et al.
Publicado: (2020)

Acute myeloid leukemia in SRP54‐mutated congenital neutropenia
por: Sabulski, Anthony, et al.
Publicado: (2022)

MBRS-63. THE ROLE OF THE SWI/SNF COMPLEX SUBUNIT SMARCD3 IN MEDULLOBLASTOMA
por: Poore, Brad, et al.
Publicado: (2020)

Granulocyte colony-stimulating factor (filgrastim) in chemotherapy-induced febrile neutropenia
por: Advani, S. H., et al.
Publicado: (2010)

Dose-Dependent Effect of Granulocyte Transfusions in Hematological Patients with Febrile Neutropenia
por: Teofili, Luciana, et al.
Publicado: (2016)

Novel Point Mutation in the Extracellular Domain of the Granulocyte Colony-Stimulating Factor (G-Csf) Receptor in a Case of Severe Congenital Neutropenia Hyporesponsive to G-Csf Treatment
por: Ward, Alister C., et al.
Publicado: (1999)

Clinical practice in febrile neutropenia risk assessment and granulocyte colony-stimulating factor primary prophylaxis of febrile neutropenia in Poland
por: Wojtukiewicz, Marek, et al.
Publicado: (2014)

Diagnostic accuracy of an integrated approach using conventional ultrasonography, and Doppler and strain elastography in the evaluation of superficial soft tissue lesions
por: Baloji, Abhiman, et al.
Publicado: (2020)

Floral Induction in the Short-Day Plant Chrysanthemum Under Blue and Red Extended Long-Days
por: SharathKumar, Malleshaiah, et al.
Publicado: (2021)

Recommendations for standardized definitions, clinical assessment, and future research in pediatric clinically unsuspected venous thromboembolism: Communication from the ISTH SSC subcommittee on pediatric and neonatal thrombosis and hemostasis
por: Betensky, Marisol, et al.
Publicado: (2022)

Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy
por: McGeachie, Michael J., et al.
Publicado: (2020)

SMARCD1 negatively regulates myeloid differentiation of leukemic cells via epigenetic mechanisms
por: Saha, Subha, et al.
Publicado: (2022)

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
por: Isaacs, David, et al.
Publicado: (2017)

Outcomes for patients with severe chronic neutropenia treated with granulocyte colony-stimulating factor
por: Dale, David C., et al.
Publicado: (2022)

Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia
por: Mahat, Upendra, et al.
Publicado: (2022)

Smarcd1 Inhibits the Malignant Phenotypes of Human Glioblastoma Cells via Crosstalk with Notch1
por: Zhu, Yihao, et al.
Publicado: (2020)

Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
por: Ye, Ying, et al.
Publicado: (2011)

Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
por: Shim, Ye Jee, et al.
Publicado: (2011)

P755: STUDIES OF THE SPECIFIC TCIRG1 MUTATIONS CAUSING CONGENITAL NEUTROPENIA
por: Makaryan, Vahagn, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_l3tl9von55pgl6m9on5o6le9d1