[HTML][HTML] Health-related quality of life in primary immunodeficiencies: impact of delayed diagnosis and treatment burden

JT Anderson, J Cowan, A Condino-Neto, D Levy… - Clinical …, 2022 - Elsevier
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 …

[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 …

[HTML][HTML] Atypical ataxia presentation in variant ataxia telangiectasia: Iranian case-series and review of the literature

T Moeini Shad, R Yazdani, P Amirifar… - Frontiers in …, 2022 - frontiersin.org
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
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 …

[HTML][HTML] Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19

H Abolhassani, S Delavari, N Landegren… - Journal of Allergy and …, 2022 - Elsevier
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 …

[HTML][HTML] Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry

M Jamee, G Azizi, S Baris, E Karakoc-Aydiner… - Clinical …, 2022 - Elsevier
Monogenic immune dysregulation diseases (MIDD) are caused by defective
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 …

[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 …

[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 …

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 …