Assuntos
Agamaglobulinemia/tratamento farmacológico , Terapia de Reposição de Enzimas/métodos , Hidrolases/uso terapêutico , Polietilenoglicóis/uso terapêutico , Imunodeficiência Combinada Severa/tratamento farmacológico , Adenosina Desaminase/deficiência , Adulto , Humanos , Masculino , Resultado do TratamentoAssuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Haploinsuficiência , Fenótipo , Doenças da Imunodeficiência Primária/diagnóstico , Proteína 3 Induzida por Fator de Necrose Tumoral alfa/genética , Diagnóstico Diferencial , Estudos de Associação Genética/métodos , HumanosRESUMO
In 2010, the New York State (NYS) Newborn Screen (NBS) Program added the T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency disorder (SCID). The objective of this study was to perform a retrospective chart review of 199 infants referred to a single institution for abnormal TREC on NYS NBS between 2010 and 2017. Statistical analysis included analysis of variance, logistic regression models, chi-square, and linear mixed models. One hundred ninety-nine infants were found to have a TREC value of fewer than 200 copies/µL on NYS NBS. Infants were stratified as primary immunodeficiency (PID) (n = 54), immunocompetent (n = 133), lost to follow-up (n = 8), or deceased (n = 4). PID included SCID (n = 3), DiGeorge (n = 6), idiopathic lymphopenia (IL) (n = 44), and other syndromes associated with lymphopenia (n = 3). The 3 SCID cases were identified and brought to treatment, although all experienced significant infections. The study population was found to be predominately non-Hispanic, African American, and male. There was a difference in the average TREC values among those with immunocompetence (83 copies/µL), IL (81 copies/µL), and PID (40 copies/µL) (p < 0.05). On follow-up of 40 patients with IL, patients typically did not have severe infections during first few years of life. This study demonstrates that TREC value can be used to stratify infants for further confirmatory testing to exclude PID. Risk factors, such as stressful prenatal/postnatal conditions, prematurity, race, and sex may affect TREC value but cannot explain all causes of lymphopenia. This study may assist providers in risk stratifying the likelihood of PID with an abnormal TREC and determining the extent of the initial work up that is necessary at the time of a newborn's presentation.
Assuntos
Negro ou Afro-Americano , Triagem Neonatal/métodos , Receptores de Antígenos de Linfócitos T/genética , Imunodeficiência Combinada Severa/diagnóstico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Linfopenia , Masculino , New York/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Centros de Cuidados de Saúde Secundários , Imunodeficiência Combinada Severa/epidemiologiaRESUMO
Asthma is a common disease in paediatrics and adults with a significant morbidity, mortality, and financial burden worldwide. Asthma is now recognized as a heterogeneous disease and emerging clinical and laboratory research has elucidated understanding of asthma's underlying immunology. The future of asthma is classifying asthma by endotype through connecting discernible characteristics with immunological mechanisms. This comprehensive review of the immunology of asthma details the currently known pathophysiology and clinical practice biomarkers in addition to forefront biologic and targeted therapies for all of the asthma endotypes. By understanding the immunology of asthma, practitioners will be able to diagnose patients by asthma endotype and provide personalized, biomarker-driven treatments to effectively control patients' asthma.