Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein deficiency: a systematic review
Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the …
immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the …
[HTML][HTML] Diagnostic yield of next generation sequencing in genetically undiagnosed patients with primary immunodeficiencies: a systematic review
HAF Yska, K Elsink, TW Kuijpers, GWJ Frederix… - Journal of clinical …, 2019 - Springer
Background As the application of next generation sequencing (NGS) is moving to earlier
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …
[HTML][HTML] EuroFlow-based flowcytometric diagnostic screening and classification of primary immunodeficiencies of the lymphoid system
JJM Van Dongen, M Van der Burg, T Kalina… - Frontiers in …, 2019 - frontiersin.org
Guidelines for screening for primary immunodeficiencies (PID) are well-defined and several
consensus diagnostic strategies have been proposed. These consensus proposals have …
consensus diagnostic strategies have been proposed. These consensus proposals have …
[HTML][HTML] Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies
C Cifaldi, I Brigida, F Barzaghi, M Zoccolillo… - Frontiers in …, 2019 - frontiersin.org
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …
[HTML][HTML] Human and computational models of atopic dermatitis: A review and perspectives by an expert panel of the International Eczema Council
Atopic dermatitis (AD) is a prevalent disease worldwide and is associated with systemic
comorbidities representing a significant burden on patients, their families, and society …
comorbidities representing a significant burden on patients, their families, and society …
[HTML][HTML] Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the italian primary immunodeficiency …
E Cirillo, C Cancrini, C Azzari, S Martino… - Frontiers in …, 2019 - frontiersin.org
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune
system, usually associated with severe or life-threatening infections. Due to the variability of …
system, usually associated with severe or life-threatening infections. Due to the variability of …
[HTML][HTML] Clinical, immunological, and molecular findings in 57 patients with severe combined immunodeficiency (SCID) from India
Severe combined immunodeficiency (SCID) represents one of the most severe forms of
primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral …
primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral …
[HTML][HTML] Comprehensive genetic results for primary immunodeficiency disorders in a highly consanguineous population
W Al-Herz, J Chou, OM Delmonte… - Frontiers in …, 2019 - frontiersin.org
Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs)
in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait …
in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait …
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
J Khourieh, G Rao, T Habib, DT Avery… - Proceedings of the …, 2019 - National Acad Sciences
Heterozygous in-frame mutations in coding regions of human STAT3 underlie the only
known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial …
known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial …
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran
Background Severe combined immunodeficiency (SCID) is the most severe form of primary
immunodeficiency disorders that is characterized by impaired early T lymphocyte …
immunodeficiency disorders that is characterized by impaired early T lymphocyte …