Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery

Modell, Vicki; Knaus, Megan; Modell, Fred; Roifman, Chaim M.; Orange, Jordan S.; Notarangelo, Luigi D.

doi:10.1007/s12026-014-8498-z

Cited by 84 publications

(65 citation statements)

References 18 publications

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“…There has been a 350 % increase recorded for reported cases (registries, articles [2,3], personal communications) in the 2012-2015 period, compared to the 2007-2009 period. Even more impressive in the JMF survey, there has been an 800 % increase [4,5]. However, this improvement was typically seen in countries where awareness programs were conducted, such as Tunisia, Morocco (300 % each), South Africa (200 %), Egypt (340 %) and Algeria (800 % increase).…”

Section: Epidemiologymentioning

confidence: 99%

Development of Primary Immunodeficiencies in Africa

Bousfiha¹,

Jeddane²,

Erwa³

et al. 2015

J Clin Immunol

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Section: Epidemiologymentioning

confidence: 99%

Development of Primary Immunodeficiencies in Africa

Bousfiha¹,

Jeddane²,

Erwa³

et al. 2015

J Clin Immunol

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“…SCID is the first NBS condition for which DNA analysis is the primary (first-tier) screening method. Since the initial pilot experiences in 2 US state public health laboratories (11,12 ), SCID-NBS has expanded to many other state programs (13,14 ) and now covers the majority of newborns in the US as well as many newborns globally (15 ). SCID-NBS prevents infant death through early medical intervention and is highly cost-effective (16,17 ).…”

confidence: 99%

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

et al. 2015

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BACKGROUND Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years. SCID detection is based on real-time PCR assays to measure T-cell receptor excision circles (TREC), a byproduct of T-cell development. We modified a multiplexed real-time PCR TREC assay to simultaneously determine the presence or absence of the SMN1 gene from a dried blood spot (DBS) punch in a single reaction well. METHOD An SMN1 assay using a locked nucleic acid probe was initially developed with cell culture and umbilical cord blood (UCB) DNA extracts, and then integrated into the TREC assay. DBS punches were placed in 96-well arrays, washed, and amplified directly using reagents specific for TREC, a reference gene [ribonuclease P/MRP 30kDa subunit (RPP30)], and the SMN1 gene. The assay was tested on DBS made from UCB units and from peripheral blood samples of SMA-affected individuals and their family members. RESULTS DBS made from SMA-affected individuals showed no SMN1-specific amplification, whereas DBS made from all unaffected carriers and UCB showed SMN1 amplification above a well-defined threshold. TREC and RPP30 content in all DBS were within the age-adjusted expected range. CONCLUSIONS SMA caused by the absence of SMN1 can be detected from the same DBS punch used to screen newborns for SCID.

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“…Between 25 and 45% of all PIDs are diagnosed in adulthood and this percentage is higher in western patients as evidenced in the ESID, IDF, JMF and Mount-Sinai cohorts [86,91,92].…”

Section: Pid Diagnostic Clues In Adultsmentioning

confidence: 99%

Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children

Abolhassani

Rezaei

Mohammadinejad

et al. 2015

Expert Review of Clinical Immunology

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Primary immunodeficiency disorders (PIDs) constitute a heterogeneous group of genetic disorders caused by defects in immunity, leading to recurrent infections, autoimmunity, lymphoproliferation and malignancies. Early diagnosis of PIDs is crucial for improving the quality of life in patients with PIDs while a delay in diagnosis, or inadequate treatment, results in an increased mortality and morbidity in affected individuals. Although most cases of PIDs present in children with recurrent and/or severe acute infections, some of the primary immune disorders are diagnosed during adulthood. Some common clues, both in children and adults, help physicians to diagnose PIDs; however, there are some specific clues to the diagnosis of PIDs for each group. This article reviews the important differences in the diagnostic spectrum of PIDs in adults versus children.

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Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery

Cited by 84 publications

References 18 publications

Development of Primary Immunodeficiencies in Africa

Development of Primary Immunodeficiencies in Africa

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children

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