Partial defects of T-cell development associated with poor T-cell function

Notarangelo, Luigi D.

doi:10.1016/j.jaci.2013.01.020

Cited by 18 publications

(10 citation statements)

References 129 publications

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“…Lymphocyte development is unaffected; however, T-cell activation as well as the functions of other immune cells, including B cells, are severely impaired. Natural killer (NK) cell functions, including degranulation, cytokine production, and cytolytic activity may also be impaired (Notarangelo 2013).…”

Section: Calcium Channel Deficiencymentioning

confidence: 99%

Cardiovascular abnormalities in primary immunodeficiency diseases

et al. 2015

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In recent years, increasing numbers of patients with primary immune deficiency (PID) are being recognized as also suffering from cardiovascular system (CVS) abnormalities. These CVS defects might be explained by infectious or autoimmune etiologies, as well as by the role of specific genes and the immune system in the development and function of CVS tissues. Here, we provide the first comprehensive review of the clinical, potentially pathogenic mechanisms, and the management of PID, as well as the associated immune and CVS defects. In addition to some well-known associations of PID with CVS abnormalities, such as DiGeorge syndrome and CHARGE anomaly, we describe the cardiac defects associated with Omenn syndrome, calcium channel deficiencies, DNA repair defects, common variable immunodeficiency, Roifman syndrome, various neutrophil/macrophage defects, FADD deficiency, and HOIL1 deficiency. Moreover, we detail the vascular abnormalities recognized in chronic mucocutaneous candidiasis, chronic granulomatous disease, Wiskott-Aldrich syndrome, Schimke immuno-osseus dysplasia, hyper-IgE syndrome, MonoMAC syndrome, and X-linked lymphoproliferative disease. In conclusion, the expanding spectrum of PID requires increased alertness to the possibility of CVS involvement as an important contributor to the diagnosis and management of these patients.

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Section: Calcium Channel Deficiencymentioning

confidence: 99%

Cardiovascular abnormalities in primary immunodeficiency diseases

et al. 2015

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“…A new insight into the immune mechanism was opened by describing PIDs resulting from incomplete loss of T-cell function. They consisted of recently discovered gene defects including lymphocyte-specific tyrosine kinase (LCK) deficiency, Ras homology, family member H (RHOH) deficiency, macrophage stimulating 1 (MST1) deficiency, dedicator of cytokinesis 8 (DOCK8), deficiency, IL-2-inducible tyrosine kinase (ITK) deficiency and coronin 1A (CORO1A) deficiency [18]. A recent study discussed a new insight of PIDs and their clinical patterns according to the geographic and regional distribution.…”

Section: Recent Discoveriesmentioning

confidence: 99%

Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics

Ebadi

Aghamohammadi

Rezaei

2014

Expert Review of Clinical Immunology

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A shift has occurred in the diagnostic and therapeutic modalities considered for patients with primary immunodeficiency diseases (PIDs). Early diagnosis remains the mainstay in appropriate management and remarkably influences the prognosis. More specific diagnostic tests as well as therapeutic modalities have been introduced in the last few decades. Nonetheless, the importance of a thorough history taking and physical examination should not be neglected. Novel diagnostic modalities including genetic sequencing have led to the recognition of previously unknown defects underlying PIDs. In addition, newborn screening is being advocated as an imperative diagnostic test. In terms of treatment, hematopoietic stem cell transplantation is considered the optimal treatment modality for many cases and has dramatically improved the outcome. Gene transfer into hematopoietic stem cells prior to transplantation has improved the efficacy of hematopoietic stem cell transplantation. In this article, the latest advances made in terms of diagnosis and treatment of PIDs are reviewed.

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“…Infants born with SCID appear normal at birth. However, these patients are at high risk of early-onset life-threatening infections (Notarangelo 2013). The mainstay treatment for SCID in general and ADA-SCID in particular is hematopoietic stem cell transplantation.…”

Section: Introductionmentioning

confidence: 99%

Tandem mass spectrometric determination of purine metabolites and adenosine deaminase activity for newborn screening of ADA–SCID

et al. 2015

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Background: Screening newborns for severe combined immunodeficiency (SCID) aims for early identification and treatment of the affected newborns. Adenosine deaminase (ADA) deficiency, a defect in the purine metabolic pathway, is a major cause of SCID and is characterized by the accumulation of adenosine (Ado) and deoxyadenosine (dAdo) in dried blood spots (DBSs). If left untreated, infants with this disorder are at risk of life-threatening infections. Analysis of T-cell receptor excision circles (TRECs) in DBS samples is the gold-standard screening method. However, TREC analysis is insufficient to determine SCID etiology, and a fraction of ADA-SCID may not be detected.

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Partial defects of T-cell development associated with poor T-cell function

Cited by 18 publications

References 129 publications

Cardiovascular abnormalities in primary immunodeficiency diseases

Cardiovascular abnormalities in primary immunodeficiency diseases

Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics

Tandem mass spectrometric determination of purine metabolites and adenosine deaminase activity for newborn screening of ADA–SCID

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