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Acta Medica Iranica، جلد ۵۴، شماره ۱۰، صفحات ۶۲۰-۶۲۳
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چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells
چکیده انگلیسی مقاله LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs*2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله سیما شکری | sima shokri
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

محمد نبوی | mohammad nabavi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

tatjana hirschmugl | tatjana hirschmugl
cemm research center for molecular medicine, austrian academy of sciences, vienna, austria.


اصغر آقامحمدی | asghar aghamohammadi
research center for immunodeficiencies, children amp;amp; 039;s medical center, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

صبا عرشی | saba arshi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

محمد حسن بمانیان | mohamad hassan bemanian
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

مرتضی فلاح پور | morteza fallahpour
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

رسول ملاطفی | rasool molatefi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

مهسا رکابی | mahsa rekabi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

نرگس اسلامی | narges eslami
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

جواد احمدیان | javad ahmadian
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

کیان دارابی | kian darabi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

غلام رضا صدیقی | gholam reza sedighi
department of allergy and clinical immunology, rasool-e-akram hospital, iran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (Iran university of medical sciences)

مریم منجم زاده | maryam monajemzadeh
pediatrics center for excellence, children amp;amp; 039;s medical center, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

محمدرضا مدرسی | mohammadreza modaresi
pediatrics center for excellence, children amp;amp; 039;s medical center, tehran university of medical sciences, tehran, iran. and pediatric respiratory diseases education and research network prdern , universal scientific education and research network usern , tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نیما پروانه | nima parvaneh
research center for immunodeficiencies, children amp;amp; 039;s medical center, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

kaan boztug | kaan boztug
cemm research center for molecular medicine, austrian academy of sciences, vienna, austria. and department of pediatrics and adolescent medicine, medical university of vienna, vienna, austria.


نیما رضایی | nima rezaei
research center for immunodeficiencies, children amp;amp; 039;s medical center, tehran university of medical sciences, tehran, iran. and department of immunology, school of medicine, tehran university of medical sciences, tehran, iran. and network of immunity in infection, malignancy and autoimmunity niima , universal scientific education and research network usern , boston, ma, usa.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/5773
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