PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations
نویسندگان
چکیده
منابع مشابه
Severe congenital neutropenia: new lane for ELANE.
In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).
متن کاملDigenic mutations in severe congenital neutropenia.
Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigen...
متن کاملDifferent Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis ...
متن کاملNovel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropen...
متن کاملdifferent pattern of gene mutations in iranian patients with severe congenital neutropenia (including 2 new mutations).
severe congenital neutropenia (scn) is a rare primary immunodeficiency disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr and g6pc3. the aim of this study was to find different gene mutations responsible for scn in iranian patients. twenty-seven patients with scn referred to immunology, asthma and allergy r...
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ژورنال
عنوان ژورنال: Blood Advances
سال: 2021
ISSN: 2473-9529,2473-9537
DOI: 10.1182/bloodadvances.2020003214