ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer
نویسندگان
چکیده
منابع مشابه
Different 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 کاملAllogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events
Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic m...
متن کاملSevere 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 کاملA Case Report on Recurrent Oral Ulcers Associated with Cyclic Neutropenia
Cyclic Neutropenia (CyN) is a rare blood disorder characterized by regular oscillations in the value of peripheral blood neutrophils, generally with 21-day periodicity [1]. CyN was first reported in 1910, and usually presents early in childhood [2]. An estimated incidence of CyN was one to two per million [3]. Absolute neutrophil count is nadir, and always below 0.2*109/L [4]. During phases of ...
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ژورنال
عنوان ژورنال: Medicine
سال: 2018
ISSN: 0025-7974
DOI: 10.1097/md.0000000000010031