A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in Turkish children
نویسندگان
چکیده
Methods A total of 93 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected prospectively. For autosomalrecessive diseases (MKD and FMF), only homozygous or compound heterozygous patients were accepted as genetically positive. The developed diagnostic score was validated in an independent set of 93 patients.
منابع مشابه
Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever
Address: 1UO Pediatria II Istituto G. Gaslini and Dipartimento di Pediatria, University of Genoa, Genoa, Italy, 2Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genoa, Italy, 3Unità di Biostatistica, DISSAL, University of Genoa, Genoa, Italy, 4Dipartimento di Pediatria, Unità di Immunologia e Reumatologia Pediatrica, Spedali Civili e University of Brescia, Brescia, Italy, 5Dipartimento...
متن کاملA diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
OBJECTIVE To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic ...
متن کاملFamilial Mediterranean Fever: Review of Literature and Report of Two Cases
Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the q...
متن کاملDistribution of Primary Immunodeficiency Disorders Diagnosed in a Tertiary Referral Center, Tehran, Iran (2006-2013)
Background: Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. Objective: To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital. Method: All PID cases with a confirmed diagnosis,...
متن کاملThe Prototype of Hereditary Periodic Fevers: Familial Mediterranean Fever
Autoinflammatory disorders are multisystem periodic fever syndromes, and characterized with recurrent unprovoked inflammation of the serosal membranes. Unlike autoimmune disorders, autoinflammatory disorders lack the production of high-titer autoantibodies or antigen-specific T cells. These diseases primarily include hereditary syndromes (Table 1); Familial Mediterrenean fever (FMF), TNF recept...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 9 شماره
صفحات -
تاریخ انتشار 2011