[HTML][HTML] Health-related quality of life in primary immunodeficiencies: impact of delayed diagnosis and treatment burden
Accurate and timely diagnosis of primary immunodeficiencies (PID) is an ongoing effort.
Individuals with PID can be severely impacted by their disease and many experience …
Individuals with PID can be severely impacted by their disease and many experience …
[HTML][HTML] Inherited IFNAR1 deficiency in a child with both critical COVID-19 pneumonia and multisystem inflammatory syndrome
H Abolhassani, N Landegren, P Bastard… - Journal of clinical …, 2022 - Springer
Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs)
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
[HTML][HTML] Atypical ataxia presentation in variant ataxia telangiectasia: Iranian case-series and review of the literature
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …
disorder. A minority of AT patients can present late-onset atypical presentations due to …
[HTML][HTML] X-linked TLR7 deficiency underlies critical COVID-19 pneumonia in a male patient with ataxia-telangiectasia
H Abolhassani, A Vosughimotlagh, T Asano… - Journal of clinical …, 2022 - Springer
Abstract Background Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of
clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the …
clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the …
[HTML][HTML] Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
Background Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected
individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the …
individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the …
[HTML][HTML] Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
Monogenic immune dysregulation diseases (MIDD) are caused by defective
immunotolerance. This study was designed to increase knowledge on the prevalence and …
immunotolerance. This study was designed to increase knowledge on the prevalence and …
Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency
AP Sefer, H Abolhassani, F Ober, B Kayaoglu… - Journal of clinical …, 2022 - Springer
Purpose MALT1 deficiency is a combined immune deficiency characterized by recurrent
infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological …
infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological …
[HTML][HTML] COVID-19 in unvaccinated patients with inborn errors of immunity—polish experience
S Kołtan, M Ziętkiewicz, E Grześk, R Becht… - Frontiers in …, 2022 - frontiersin.org
At the beginning of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)
pandemic, patients with inborn errors of immunity (IEI) appeared to be particularly …
pandemic, patients with inborn errors of immunity (IEI) appeared to be particularly …
[HTML][HTML] Inborn errors of immunity in Algerian children and adults: a single-center experience over a period of 13 years (2008–2021)
B Belaid, L Lamara Mahammed, O Drali… - Frontiers in …, 2022 - frontiersin.org
Background Inborn errors of immunity (IEI) predispose patients to various infectious and non-
infectious complications. Thanks to the development and expanding use of flow cytometry …
infectious complications. Thanks to the development and expanding use of flow cytometry …
Immunophenotypic and functional analysis of lymphocyte subsets in common variable immunodeficiency patients without monogenic defects
F Tofighi Zavareh, A Mirshafiey… - Scandinavian …, 2022 - Wiley Online Library
Common variable immunodeficiency (CVID) is accompanied by various lymphocyte
abnormalities believed to be mostly responsible for disease features in patients with no …
abnormalities believed to be mostly responsible for disease features in patients with no …