Global systematic review of primary immunodeficiency registries

H Abolhassani, G Azizi, L Sharifi… - Expert review of …, 2020 - Taylor & Francis
Introduction During the last 4 decades, registration of patients with primary
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …

Current genetic landscape in common variable immune deficiency

H Abolhassani, L Hammarström… - Blood, The Journal …, 2020 - ashpublications.org
Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

The human phenotype ontology in 2021

S Köhler, M Gargano, N Matentzoglu… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …

A possible role for B cells in COVID-19? Lesson from patients with agammaglobulinemia

I Quinti, V Lougaris, C Milito, F Cinetto… - Journal of Allergy and …, 2020 - jacionline.org
To the Editor: An epidemic of coronavirus SARS-CoV-2 has become the focus of scientific
attention. 1 The high infectivity of SARS-CoV-2 and rapid rise in the number of patients …

Immunogenicity of Pfizer-BioNTech COVID-19 vaccine in patients with inborn errors of immunity

D Hagin, T Freund, M Navon, T Halperin, D Adir… - Journal of Allergy and …, 2021 - Elsevier
Background In mid-December 2020, Israel started a nationwide mass vaccination campaign
against coronavirus disease 2019 (COVID-19). In the first few weeks, medical personnel …

[PDF][PDF] The human phenotype ontology in 2017

S Kohler, NA Vasilevsky, M Engelstad, E Foster… - 2017 - repository.ubn.ru.nl
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Impact of SARS-CoV-2 pandemic on patients with primary immunodeficiency

S Delavari, H Abolhassani, F Abolnezhadian… - Journal of clinical …, 2021 - Springer
Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less
than 1: 1000 infected individuals below the age of 50, but the real impact of this pandemic …

Humoral and cellular response following vaccination with the BNT162b2 mRNA COVID-19 vaccine in patients affected by primary immunodeficiencies

D Amodio, A Ruggiero, M Sgrulletti, C Pighi… - Frontiers in …, 2021 - frontiersin.org
Mass SARS-Cov-2 vaccination campaign represents the only strategy to defeat the global
pandemic we are facing. Immunocompromised patients represent a vulnerable population at …

Chronic granulomatous disease: a comprehensive review

HH Yu, YH Yang, BL Chiang - Clinical reviews in allergy & immunology, 2021 - Springer
Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocyte function
due to defective NADPH oxidase (phox). Compared with the common types of CYBB/gp91 …

SARS-CoV-2 vaccine induced atypical immune responses in antibody defects: everybody does their best

AF Salinas, EP Mortari, S Terreri, C Quintarelli… - Journal of clinical …, 2021 - Springer
Background Data on immune responses to SARS-CoV-2 in patients with Primary Antibody
Deficiencies (PAD) are limited to infected patients and to heterogeneous cohorts after …