Leila Shakerian
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View article: Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations
Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations Open
Ataxia Telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ataxia telengiectasia mutated (ATM) gene. The gene is on chromosome 11q22-23 and codes for the protein kinase ATM, which plays a…
View article: Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations Open
Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of combined immunodeficiency with a profound cellular defect. Pati…
View article: Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel Mutations
Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel Mutations Open
Background : Ataxia Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene. The gene is on chromosome 11q22-23 and codes for the protein kinase ATM, which plays an essential role in …
View article: Investigating the Variation of TREC/KREC in Combined Immunodeficiencies
Investigating the Variation of TREC/KREC in Combined Immunodeficiencies Open
T-cell receptor excision circles (TREC)/Kappa-deleting recombination excision circles (KREC) assay has been recently recognized for detecting patients with primary (T- and/or B-cell) immunodeficiency (PID). We aimed to investigate the alte…
View article: Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis)
Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis) Open
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by genetic defects in the Bruton tyrosine kinase (Btk) gene. XLA is characterized as an antibody deficiency by recurrent bacterial infections, the absence of peripheral…
View article: Determining Laboratory Reference Values of TREC and KREC in Different Age Groups of Iranian Healthy Individuals
Determining Laboratory Reference Values of TREC and KREC in Different Age Groups of Iranian Healthy Individuals Open
Assessment of the number of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) copies has been recently described as biomarkers of newly formed T and B cells respectively. In this study, we aim…
View article: Newborn screening using <scp>TREC</scp>/<scp>KREC</scp> assay for severe T and B cell lymphopenia in Iran
Newborn screening using <span>TREC</span>/<span>KREC</span> assay for severe T and B cell lymphopenia in Iran Open
T‐cell receptor excision circles ( TREC s) and κ‐deleting recombination excision circles ( KREC s) are recently used for detection of T or B cell lymphopenia in neonates based on region‐specific cutoff levels. Here, we report cutoffs for T…