Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies

In conclusion, PCA applied to T cell MFC data might help the physician to estimate the severity of specific PID and to diversify the clinical and diagnostic approach of the patients.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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DiGeorge syndrome (DGS) is the most common congenital chromosome deletion syndrome which appears in 1:4000 live births as the result of 22q11.2 microdeletion1. It is a primary immunodeficiency disease (PID), characterized with decreased T-cell numbers1,2. There is a growing body of evidence that DGS is associated with humoral immune deficiency (ID) as the result of B-lymphocyte functional deficit, leading to hypogammaglobulinemia1,2. Patients with DGS show increased incidence of infection and autoimmune diseases (ADs)1.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Letters Source Type: research
CONCLUSION: In our sample, live vaccines were well-tolerated, even in children with moderate T-CD4+ lymphopenia and abnormal lymphocyte proliferative responses to antigens/mitogens. PMID: 31445531 [PubMed - in process]
Source: Acta Medica Portuguesa - Category: General Medicine Tags: Acta Med Port Source Type: research
DiGeorge syndrome (DGS) is a primary immunodeficiency characterized by various degrees of T-cell deficiency. In partial DGS (pDGS), other risk factors could predispose to recurrent infections, autoimmunity, and allergy. The aim of this study was to assess the effect of different factors in the development of infections, autoimmunity, and/or allergy in patients with pDGS. We studied 467 pDGS patients in follow-up at Great Ormond Street Hospital. Using a multivariate approach, we observed that palatal anomalies represent a risk factor for the development of recurrent otitis media with effusion. Gastroesophageal reflux/dyspha...
Source: Blood - Category: Hematology Authors: Tags: Pediatric Hematology, Immunobiology and Immunotherapy Source Type: research
Discussion In this section, we discuss the mechanisms responsible for lymphomagenesis in the various inborn errors of immunity and provide an overview of the treatment. Defects in Immune Responses That Predispose to Lymphomagenesis in PIDDs The complex immune mechanisms and their interplay that predisposes to neoplastic transformation of B or T cells and development of lymphomas in PIDD patients has not been fully elucidated. However, it is expected that the etiology in most cases is multifactorial and related to a dynamic regulation of immune response and environmental triggers (Figure 3). An underlying intrinsic susce...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionNeurological involvement is a rare and severe late event in the course of childhood ES, which can reveal an underlying PID. Imaging and pathology examination highlight a causative immune dysregulation that may guide targeted therapeutic strategies.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research
Discussion Severe-combined immunodefiency (SCID) is actually a group of inherited disorders with an absence or dysfunction of T, B and NK cells that results in severe dysfunction of the immune system. SCID is a primary immunodeficiency. SCID was thought to be a rare disorder but with the advent of neonatal screening the incidence in the US general population is estimated at ~1 in 58,000 live births, but with numbers higher or lower depending on the specific population. Patients often have failure to thrive, oral candidiasis, and diarrhea as infants as well as a variety of infectious diseases. They can also have interstit...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
INTRODUCTIONSevere combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PIDs). Impaired cellular and humoral immunity renders the affected infants susceptible to various infections and results in death within the first 2 years of life. Affected infants are asymptomatic at birth, untreated disease leads to death, and prompt treatment (i.e., hematopoietic stem cell transplantation, gene therapy, or enzyme replacement therapy) is linked to significant improvement in outcome. Thus, SCID meets the disease criteria for newborn screening (NBS). The T-cell receptor excision circle...
Source: Blood - Category: Hematology Authors: Tags: 203. Lymphocytes, Lymphocyte Activation, and Immunodeficiency, including HIV and Other Infections: Poster III Source Type: research
Type 2 immunity (T2), described by high IgE/eosinophils (hIgEe) and allergy, is not an expected primary immunodeficiencies (PI) phenotype outside of syndromes of Hyper IgE, Wiskott, Atypical DiGeorge or Omenn. We uncovered T2 allergic disease novel to four different PIs affecting phagocytes; B cells; thymus/T-cells.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M364 Source Type: research
Newborn screen (NBS) for primary immunodeficiency is performed in the vast majority of states. Dried blood spots are collected from infants. The samples undergo quantitative PCR to quantify T cell receptor excision circles (TRECs). This screening detects Severe Combined Immunodeficiency (SCID) as well as hypomorphic mutations in SCID genes, conditions resulting in the arrest of T cell development such as DiGeorge syndrome and conditions presenting with T cell lymphopenia.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M229 Source Type: research
ConclusionsThe EnLite Neonatal TREC kit correctly identified known SCID or CDGS patients as presumptive positive samples, and initial cut‐offs for TREC and β‐actin in the Victorian NBS population were determined. A larger pilot study is required to confirm these proposed cut‐offs and to evaluate the cost and implementation of this screening programme in Victoria, Australia. Overall, this study provides preliminary data to support the introduction of this assay to the NBS programme in Victoria.
Source: Journal of Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Original Article Source Type: research
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