Genetic screening of the patients with primary immunodeficiency by whole-exome sequencing
B Erman, F Çipe - Pediatric Allergy, Immunology, and Pulmonology, 2020 - liebertpub.com
Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital
disorders characterized by susceptibility to recurrent infections, allergy, malignancies and …
disorders characterized by susceptibility to recurrent infections, allergy, malignancies and …
[HTML][HTML] Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model
I Serra, OR Manusama, FMP Kaiser, II Floriano… - Brain, Behavior, & …, 2021 - Elsevier
Abstract The phosphoinositide-3-kinase (PI3K) family plays a major role in cell signaling and
is predominant in leukocytes. Gain-of-function (GOF) mutations in the PIK3CD gene lead to …
is predominant in leukocytes. Gain-of-function (GOF) mutations in the PIK3CD gene lead to …
Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia
Background Congenital agammaglobulinemia is the first primary immunodeficiency disorder
characterized by a defect in B lymphocyte development and subsequently decreased …
characterized by a defect in B lymphocyte development and subsequently decreased …
Dysregulated actin dynamics in activated PI3Kδ syndrome
JG Wallace, P Zambrano-Rodas… - Clinical …, 2020 - Elsevier
Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD,
which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been …
which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been …
Targeted Next‐Generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China
Y Xia, T He, Y Luo, C Li, CK Lim… - Pediatric Allergy and …, 2018 - Wiley Online Library
Background Primary immunodeficiency disorders (PID) is a group of heterogeneous
diseases mainly characterized by severe and recurrent infections and an increased …
diseases mainly characterized by severe and recurrent infections and an increased …
Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity
Simple Summary Cutaneous manifestations were observed in~ 44% of Iranian patients with
monogenic IEI. A considerable number of these patients developed cutaneous disorders as …
monogenic IEI. A considerable number of these patients developed cutaneous disorders as …
Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity
Simple Summary Comprehensive studies on non-hematologic tumors in patients with inborn
errors of immunity are scarce. Using a well-established registry of patients with long-term …
errors of immunity are scarce. Using a well-established registry of patients with long-term …
Evaluation of radiation sensitivity in patients with hyper IgM syndrome
Background HIGM syndrome is a rare form of primary immunodeficiencies characterized by
normal/increased amounts of serum IgM and decreased serum levels of other switched …
normal/increased amounts of serum IgM and decreased serum levels of other switched …
Graft versus host disease and microchimerism in a JAK3 deficient patient
Background The lymphohematopoietic cells originating from feto-maternal trafficking during
pregnancy may cause microchimerism and lead to materno-fetal graft versus host disease …
pregnancy may cause microchimerism and lead to materno-fetal graft versus host disease …
Immunodeficiencies affecting cellular and humoral immunity
Z Chavoshzadeh, S Darougar, T Momen… - Inborn errors of …, 2021 - Elsevier
Combined immunodeficiencies (CIDs) are the result of defective development or function of
T cells. As the most severe form of primary immunodeficiency disorders (PID), CIDs are …
T cells. As the most severe form of primary immunodeficiency disorders (PID), CIDs are …