The natural history of ataxia-telangiectasia (AT): a systematic review
E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
L Jiang, X Hu, Q Lin, R Chen, Y Shen, Y Zhu… - Allergy, Asthma & …, 2023 - Springer
Background Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel
inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ …
inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ …
The first iranian cohort of pediatric patients with activated phosphoinositide 3-kinase-δ (PI3Kδ) syndrome (APDS)
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined
combined primary immunodeficiency disease (PID) characterized by recurrent respiratory …
combined primary immunodeficiency disease (PID) characterized by recurrent respiratory …
Investigating chromosomal radiosensitivity in inborn errors of immunity: insights from DNA repair disorders and beyond.
E Beyls, E Duthoo, L Backers, K Claes… - medRxiv, 2024 - medrxiv.org
Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders
affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in …
affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in …
[PDF][PDF] Effects of saffron extract on the frequency of radiation induced chromosomal aberration in G2-lymphocytes of normal individuals and breast cancer patients
H Mozdarani, F Pakniyat, S Mozdarani… - International Journal of …, 2021 - researchgate.net
Background: Inherent radiosensitivity associated with elevated chromosomal aberrations
(CA) was shown in breast cancer (BC) patients at cellular level. Different agents were used …
(CA) was shown in breast cancer (BC) patients at cellular level. Different agents were used …