Antibody Deficiency in Patients with Biallelic KARS1 Mutations
F Saettini, F Guerra, G Fazio, C Bugarin… - Journal of Clinical …, 2023 - Springer
Biallelic KARS1 mutations cause KARS-related diseases, a rare syndromic condition
encompassing central and peripheral nervous system impairment, heart and liver disease …
encompassing central and peripheral nervous system impairment, heart and liver disease …
[HTML][HTML] Inborn errors of immunity underlying a susceptibility to pyogenic infections: from innate immune system deficiency to complex phenotypes
Background Pyogenic bacteria are associated with a wide range of clinical manifestations,
ranging from common and relatively mild respiratory and cutaneous infections to life …
ranging from common and relatively mild respiratory and cutaneous infections to life …
Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome
T Trachsel, S Prader, K Steindl… - Frontiers in …, 2022 - frontiersin.org
Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in
chromosome 11. The clinical presentation is variable. Although immunodeficiency has been …
chromosome 11. The clinical presentation is variable. Although immunodeficiency has been …
Синдром Якобсена: отчет о клиническом случае
ЛЮ Барычева, ЛИ Бачиева… - … и Иммунология в …, 2024 - adair.elpub.ru
Аннотация Введение. Синдром Якобсена (СЯ)—редкое генетическое заболевание,
связанное с делецией хромосомы 11q, характеризующееся множественными …
связанное с делецией хромосомы 11q, характеризующееся множественными …