Immunodeficiency and Immunomonitoring

2015 ◽  
Vol 38 (1) ◽  
Author(s):  
Harald Renz
Keyword(s):  
Reference Values ◽  
Inflammatory Diseases ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Chronic Inflammatory Disease ◽  
Age Related ◽  
First Results ◽  
The Usa ◽  
Developing Area ◽  
Excision Circles

AbstractImmunological diagnostics is a rapidly developing area in laboratory medicine. Most recently, major developments in the area of immunodeficiency and the monitoring of chronic inflammatory diseases have been observed. Regarding immuno-monitoring, recently a consensus panel for basic flow cytometry has been published together with age-related reference values. In the USA, the search for severe inherited immunodeficiency diseases (such as severe combined immunodeficiency disease, SCID) is part of neonatal screening procedures. Recently, several US states published first results which are based on the measurement of T-cell receptor excision circles (TRECs). Furthermore, age-dependent reference values for the measurement of IgG subclasses and subclass-specific vaccination antibodies have been published. Monitoring of chronic inflammatory disease focuses on asthma. A novel classification based on the cellular distribution of neutrophils versus eosinophils in induced sputum has been developed. Furthermore, novel biomarkers, such as periostin, are currently under evaluation. Such novel approaches of phenotyping are now the basis of individualized therapeutic approaches in patients with (severe) asthma, who respond to certain biologicals.

scholarly journals Establishing Newborn Screening for SCID in the USA; Experience in California

2021 ◽  
Vol 7 (4) ◽  
pp. 72
Author(s):  
Jennifer M. Puck ◽  
Andrew R. Gennery
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Receptor Gene ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Dried Blood Spots ◽  
Infectious Complications ◽  
Serious Infections ◽  
The Usa ◽  
Excision Circles

Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure.

scholarly journals Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Blood ◽  
2012 ◽  
Vol 119 (11) ◽  
pp. 2552-2555 ◽  
Author(s):  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Anders Fasth ◽  
Ning Wang ◽  
Magdalena Janzi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Immunoglobulin A ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Inborn Errors ◽  
Guthrie Card ◽  
Excision Circles

Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

scholarly journals Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Stefan Kostadinov ◽  
Karen A. Robbins ◽  
Anthony Hayward
Keyword(s):  
Newborn Screening ◽  
B Lymphocyte ◽  
Severe Combined Immunodeficiency ◽  
Male Infant ◽  
Cell Receptor ◽  
Premature Neonate ◽  
Fibrin Deposition ◽  
Thymic Involution ◽  
Real Time Quantitative Pcr ◽  
Excision Circles

Severe combined immunodeficiency (SCID), a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T-) lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs) by real time quantitative PCR (RT-qPCR). This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and amassive perivillous fibrin deposition(MPFD) of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening.

scholarly journals Neonatal abstinence syndrome is a potential cause of low TREC copy number

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Adil Adatia ◽  
Ling Ling ◽  
Pranesh Chakraborty ◽  
Lauren Brick ◽  
Rae Brager
Keyword(s):  
T Cell ◽  
Copy Number ◽  
Cell Function ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Neonatal Abstinence Syndrome ◽  
Abstinence Syndrome ◽  
Genetic Condition ◽  
T Cell Lymphopenia ◽  
Excision Circles

AbstractSevere combined immunodeficiency (SCID) is a rare genetic condition characterized by significant T cell lymphopenia and impaired T cell function. Many jurisdictions use the quantitation of T cell receptor excision circles (TRECs) to screen for SCID in newborns, but false positives may be seen in several conditions. We report 3 newborns with neonatal abstinence syndrome who presented with decreased TREC copy number.

Neonatal Lymphopenia Screening Is Important For Early Diagnosis of Severe Combined Immunodeficiency

2021 ◽  
Author(s):  
Aykut Poyraz ◽  
Murat Cansever ◽  
Ipek Muderris ◽  
Turkan Patiroglu
Keyword(s):  
T Cell ◽  
T Cell Receptor ◽  
Umbilical Cord Blood ◽  
Lymphocyte Count ◽  
Blood Count ◽  
Complete Blood Count ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency ◽  
Excision Circles

Objective T-cell receptor excision circles are expensive for neonatal severe combined immunodeficiency screening in developing countries. We aimed to detect immunodeficiencies presenting with lymphopenia to enable screening in the general population and to improve awareness regarding lymphopenia among clinicians. Study Design This study was conducted prospectively. In all newborns included, complete blood count from umbilical cord blood samples was recorded. Absolute lymphopenia was defined as absolute lymphocyte count <3,000/mm3 in umbilical cord blood sample. Complete blood count was repeated at month 1 in cases found to have lymphopenia. Results Overall, 2,000 newborns were included in the study. Absolute lymphopenia was detected in 42 newborns (2.1%), while lymphocyte count was >3,000/mm3 in 1,958 newborns (97.9%). Two infants with persisted lymphopenia at the end of the first month; therefore, further evaluations such as lymphocyte subsets for severe combined immunodeficiency (SCID) were done. In the first infant, the lymphocyte subgroups were detected as compatible with T (−), B (−), natural killer cells (NK) (+) SCID phenotype RAG defect. Sanger sequencing revealed that NM_000448 c.2209C > T (p.R737C) homozygous mutation of RAG1 gene. In the other infant, the lymphocyte subgroups were found as considered with T (−), B (+) NK (−) SCID phenotype JAK3 defect. Both patients underwent hematopoietic stem cell transplantation from human leukocyte antigen-matched family member. Conclusion Absolute lymphopenia by complete blood count is a more simpler, relatively noninvasive and inexpensive screening methodfor detection of SCID in newborns compared with T-cell receptor excision circles technique. Key Points

A late preterm infant with lymphopenia

2020 ◽  
Vol 41 (2) ◽  
pp. 141-143 ◽  
Author(s):  
Shazia Lutfeali ◽  
David A. Khan ◽  
Christian Wysocki
Keyword(s):  
T Cell ◽  
Quantitative Polymerase Chain Reaction ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Unknown Etiology ◽  
Thymic Involution ◽  
Newborn Screen ◽  
T Cell Lymphopenia ◽  
Newborn Girl ◽  
Excision Circles

The newborn screen for severe combined immunodeficiency (SCID) uses real-time quantitative polymerase chain reaction for T-cell receptor excision circles and is highly sensitive for SCID. However, T-cell lymphopenia from other primary and secondary causes, such as DiGeorge syndrome, prematurity, thymic involution from stress, and thymectomy during cardiac surgery, is also detected. We present a newborn girl with T-cell lymphopenia of unknown etiology detected via abnormal newborn screen.

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