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Acta Medica Iranica، جلد ۵۷، شماره ۱۱، صفحات ۶۷۸-۶۸۱
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عنوان انگلیسی Novel CD40LG mutation in two cousins with Immunoglobulin Class Switch Recombinant Deficiency
چکیده انگلیسی مقاله The hyper-immunoglobulin M (HIGM) syndrome comprises a group of rare inherited immunodeficiency disorders characterized by normal or elevated levels of serum IgM with low or absent levels of serum IgG, IgA and IgE. Patients with this syndrome usually present with a history of recurrent infections or opportunistic infections. Here, we report two male cousins from homozygote twin mothers. First cousin presented with no signs or symptoms other than neutropenia which was accidentally found in a routine blood test. Immunological work-up in this patient showed undetectable IgG and IgA levels and normal IgM level. The second cousin had a history of recurrent infections and at the time of admission, he was diagnosed with Pneumocystis jirovecii infection. Immunologic workup of this patient showed undetectable IgG, decreased IgA and increased IgM level. Due to their interesting family relationship, genetic analysis was performed which detected a novel mutation in in exon 2 (c.266 del G) of the CD40 ligand gene (CD40LG).
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نویسندگان مقاله | Shahnaz Armin
Pediatric Infections Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
 Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Keyvan Ramezani
Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Bibi Shahin Shamsian
Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Zahra Chavoshzadeh
Pediatric Infections Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
 Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Maryam Eghbali
Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Alireza Zare Bidoki
Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Maryam Sadr
Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Mehrnaz Mesdaghi
Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Hooshang Gorjipour
Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Sepideh Razi
Student Research Committee, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
 Universal Scientific Education and Research Network (USERN), Tehran, Iran


| Nima Rezaei
Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
 Universal Scientific Education and Research Network (USERN), Tehran, Iran
 Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/7609
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/56/article-56-2410539.pdf
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