Molecular genetic test system for diagnosis of x-linked agammaglobulinemia
نویسندگان
چکیده
منابع مشابه
X-LINKED aGaMMaGLObULINEMIa: MOLEcULar GENEtIc assEssMENt OF tHE brUtON's tYrOsINE KINasE GENE IN tHrEE FaMILIEs
Received for publication: May 10, 2007. Revised: Nov. 05, 2007. rEZUMat 1 3rd Pediatric Clinic, Victor Babes University of Medicine and Pharmacy, Timisoara, 2 2nd Pediatric Clinic, University of Medicine and Pharmacy, Targu Mures, 3 Children Clinical Hospital Oradea, 4 Medical and Health Science Centre, University of Debrecen, Hungary
متن کاملneutropenia associated with x-linked agammaglobulinemia
x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
متن کامل[Dermatomyositis-like syndrome in x-linked agammaglobulinemia].
Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a...
متن کاملX-linked agammaglobulinemia and rheumatoid arthritis
The pathogenic role of B cells in rheumatoid arthritis (RA) has recently gained much interest by the marked clinical responses of anti-CD20 therapy in RA. We describe a patient with X-linked agammaglobulinemia (XLA) who presented with an erosive symmetrical polyarthritis with histological features of RA including formation of a destructive pannus. Furthermore, the patient also developed subcuta...
متن کاملGenotype/phenotype correlations in X-linked agammaglobulinemia.
No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the clinical phenotype, we examined the age at diagno...
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ژورنال
عنوان ژورنال: Faktori eksperimental'noi evolucii organizmiv
سال: 2018
ISSN: 2415-3826,2219-3782
DOI: 10.7124/feeo.v23.1012