Antibody Deficiency Testing for Primary Immune Deficiency - A Practical Review for the Clinician
A significant proportion of primary immunodeficiency (PID) diseases include humoral deficiency. Humoral deficiencies range in severity from complete deficiencies observed in diseases such as X-linked or autosomal recessive agammaglobulinemias and certain severe combined immune deficiencies (SCID), to milder specific antibody deficiencies. According to a recent update from the Jeffrey Modell Centers Network, disorders classified as primarily humoral deficiencies accounted for 45% of survey center PID patients worldwide, not including the many additional patients with combined immune deficiencies who also suffer from antibody deficiency.
Since the early identification of specific pathogenic variants in genes encoding Bruton ’s tyrosine kinase (BTK), Wiskott Aldrich syndrome protein (WASp) and the gamma chain of the interlukin-2 receptor (IL2RG), the evolution of DNA sequencing technologies has led to the identification of variants in over 350 genes causing Primary Immune Deficiency Disorders (PIDD), with new discover ies being reported each year.1 Prior to the widespread availability of genetic testing, diagnosis of PIDD relied upon assays that provide evidence of immune dysfunction, but are not typically themselves diagnostic and have various limitations.
PMID: 31472268 [PubMed - as supplied by publisher]
Severe combined immune deficiency (SCID) is the first primary immunodeficiency amenable to population-based newborn screening (NBS) and is now available in all 50 states and Puerto Rico. NBS for SCID uses real-time quantitative polymerase chain reaction to measure the number of copies of T-cell restriction excision circles (TRECs) in DNA from newborn dried blood spots and reliably detects severe T-cell lymphopenia (TCL) at birth. SCID is the primary condition detected using this assay. However, it is well known that many secondary conditions, with varying degrees of TCL, are identified through SCID NBS.
Severe Combined Immune Deficiency (SCID) is the first primary immunodeficiency amenable to population based newborn screening (NBS) and is now available in all 50 states and Puerto Rico. NBS for SCID uses real time qPCR to measure the number of copies of T cell restriction excision circles (TREC) in DNA from newborn dried blood spots (DBS) and reliably detects severe T cell lymphopenia (TCL) at birth. SCID is the primary condition detected using this assay. However, it is well known that many secondary conditions, having varying degrees of TCL, are identified through SCID NBS.
As implied by its name, common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency in adults and is a diagnosis frequently considered by the practicing allergist and clinical immunologist. Despite familiarity, there is disagreement about which immune deficient patients should be given the diagnosis of CVID. As the name also implies, patients with CVID often exhibit protean clinical manifestations1, 2. Reflecting this, the International Union of Immunological Societies (IUIS) Classification of Primary Immunodeficiency refers to CVID as a group of disorders with several clinical and la...
CONCLUSION: Mechanisms producing these conditions are poorly understood but include cytokine and cellular inflammatory pathways, and loss of tolerance to self-antigens through the multiple signaling molecules and pathways common to tolerance and immune deficiency. PMID: 31349011 [PubMed - as supplied by publisher]
Common variable immunodeficiency (CVID) is a primary immunodeficiency that is clinically heterogeneous, characterized by both infectious and non-infectious complications. While the hallmark of disease presentation is commonly a history of recurrent sinopulmonary infections, autoimmunity and non-infectious inflammatory conditions are increasing associated with CVID.
Abstract BACKGROUND: The subcutaneous immune globulin (SCIG) 20% product, Ig20Gly, was shown to be efficacious and well tolerated in two phase 2/3 North American and European studies at infusion volumes up to 60 mL/site and rates up to 60 mL/h/site in patients with primary immunodeficiency diseases. OBJECTIVE: To assess patient experience after switching to Ig20Gly with fast infusion rates and large infusion volumes/site in the North American study. METHODS: In this analysis of the open-label phase 2/3 study in which patients aged ≥2 years received weekly Ig20Gly infusions for up to approximately 1.3 ...
The subcutaneous immune globulin (SCIG) 20% product, Ig20Gly, was shown to be efficacious and well tolerated in two phase 2/3 North American and European studies at infusion volumes up to 60 mL/site and rates up to 60 mL/h/site in patients with primary immunodeficiency diseases.
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...