The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing
R Ameratunga, ST Woon, E Leung, E Lea… - Seminars in Arthritis and …, 2024 - Elsevier
Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which
can present to a number of specialties. Although infections predominate in most PIDs, some …
can present to a number of specialties. Although infections predominate in most PIDs, some …
Clinical heterogeneity in families with multiple cases of inborn errors of immunity
Background Inborn errors of immunity (IEI) are a diverse range of genetic immune system
illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and …
illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and …
Immune reconstitution and survival, following hematopoietic stem cell transplantation in Omani patients with inborn errors of immunity
Background Hematopoietic stem cell transplantation (HSCT) is a curative treatment for
certain inborn errors of immunity. Methods A 17-year retrospective cohort study was …
certain inborn errors of immunity. Methods A 17-year retrospective cohort study was …
[HTML][HTML] From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
N Taghizadeh, S Mohammadi, H Abolhassani, S Shokri… - BMC pediatrics, 2024 - Springer
Abstract Background Severe combined immunodeficiencies (SCIDs) are hereditary
disorders characterized by impaired T and B cell function, resulting in significant immune …
disorders characterized by impaired T and B cell function, resulting in significant immune …
Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for …
B Erman, U Aba, C Ipsir, D Pehlivan, C Aytekin, G Cildir… - 2024 - researchsquare.com
Molecular diagnosis of inborn errors of immunity (IEI) poses critical implications for patient's
long-term prognosis, treatment options, and genetic counseling. Over the past decade, the …
long-term prognosis, treatment options, and genetic counseling. Over the past decade, the …
خطاهای ارثی ایمنی همراه با تظاهرات آلرژیک و شبه آلرژیک
خلیلی, عباس - ماهنامه علمی پ‍ژوهشی دانشگاه علوم پزشکی شهید صدوقی یزد, 2024 - jssu.ssu.ac.ir
ققً کی چیسذلآ رَکؼیٍ یسبویث سد رَکؼیٍ دشفلا يػَس سبث يیلٍا یاشث ِک زػا یسدبً یٌویا لبػ
1937 لبػ سد چیسذلآ رشثٍسٍ 1954 يیا. ذؿ ؽساضگ شّبظس بهضگا ٍ یضیشًَخ ِث لیبوس، سشکه …
1937 لبػ سد چیسذلآ رشثٍسٍ 1954 يیا. ذؿ ؽساضگ شّبظس بهضگا ٍ یضیشًَخ ِث لیبوس، سشکه …