Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.
Isr Med Assoc J
; 15(8): 404-9, 2013 Aug.
Article
em En
| MEDLINE
| ID: mdl-24079059
ABSTRACT
BACKGROUND:
Enumeration of T cell receptor excision circles (TREC) was recently adopted as a neonatal screening assay for severe combined immunodeficiency (SCID). Enumeration of kappa-deleting recombination excision circle (KREC) copy numbers can be similarly used for early assessment of B cell lymphopenia.OBJECTIVE:
To assess the ability of TREC and KREC counts to identify patients with combined T and B cell immunodeficiency in a pilot study in Israel.METHODS:
We studied seven children born in Israel during the years 2010-2011 and later diagnosed with SCID, and an additional patient with pure B cell immunodeficiency. TREC and KREC in peripheral blood upon diagnosis and in their neonatal Guthrie cards were analyzed using real-time quantitative polymerase chain reaction, as were Guthrie cards with dried blood spots from healthy newborns and from normal and SCID-like controls.RESULTS:
The first features suggestive of SCID presented at age 3.1 +/- 2.4 months in all patients. Yet, the diagnosis was made 4.1 +/- 2.9 months later. Their TREC were undetectable or significantly low at their clinical diagnosis and in their originally stored Guthrie cards, irrespective of the amount of their circulating T cells. KREC were undetectable in six SCID patients who displayed B cell lymphopenia in addition to T cell lymphopenia. KREC were also undetectable in one patient with pure B cell immunodeficiency.CONCLUSIONS:
TREC and KREC quantification are useful screening tests for severe T and B cell immunodeficiency. Implementation of these tests is highly important especially in countries such as Israel where a high frequency of consanguinity is known to exist.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfócitos B
/
Linfócitos T
/
Triagem Neonatal
/
Imunodeficiência Combinada Severa
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
/
Infant
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Isr Med Assoc J
Assunto da revista:
MEDICINA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Israel