排序方式: 共有41条查询结果,搜索用时 15 毫秒
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Yu Nee Lee Francesco Frugoni Kerry Dobbs Jolan E. Walter Silvia Giliani Andrew R. Gennery Waleed Al-Herz Elie Haddad Francoise LeDeist Jack H. Bleesing Lauren A. Henderson Sung-Yun Pai Robert P. Nelson Dalia H. El-Ghoneimy Reem A. El-Feky Shereen M. Reda Elham Hossny Pere Soler-Palacin Ramsay L. Fuleihan Niraj C. Patel Michel J. Massaad Raif S. Geha Jennifer M. Puck Paolo Palma Caterina Cancrini Karin Chen Mauno Vihinen Frederick W. Alt Luigi D. Notarangelo 《The Journal of allergy and clinical immunology》2014
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Arnold Danielle E. Chellapandian Deepak Parikh Suhag Mallhi Kanwaldeep Marsh Rebecca A. Heimall Jennifer R. Grossman Debra Chitty-Lopez Maria Murguia-Favela Luis Gennery Andrew R. Boulad Farid Arbuckle Erin Cowan Morton J. Dvorak Christopher C. Griffith Linda M. Haddad Elie Kohn Donald B. Notarangelo Luigi D. Pai Sung-Yun Puck Jennifer M. Pulsipher Michael A. Torgerson Troy Kang Elizabeth M. Malech Harry L. Leiding Jennifer W. 《Journal of clinical immunology》2022,42(5):1026-1035
Journal of Clinical Immunology - Granulocyte transfusions are sometimes used as adjunctive therapy for the treatment of infection in patients with chronic granulomatous disease (CGD). However,... 相似文献
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Anne Marie Comeau Jaime E. Hale Sung-Yun Pai Francisco A. Bonilla Luigi D. Notarangelo Mark S. Pasternack H. Cody Meissner Ellen Rae Cooper Alfred DeMaria Inderneel Sahai Roger B. Eaton 《Journal of inherited metabolic disease》2010,33(2):273-281
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn screening conditions. A marker of SCID, the T cell receptor excision circle (TREC), is detectable in the newborn dried blood spot using a unique molecular assay as a primary screen. The New England Newborn Screening Program developed and validated a multiplex TREC assay in which both the TREC analyte and an internal control are acquired from a single punch and run in the same reaction. Massachusetts then implemented a statewide pilot SCID NBS program. The authors describe the rationale for a pilot SCID NBS program, a comprehensive strategy for successful implementation, the screening test algorithm, the screening follow-up algorithm and preliminary experience based on statewide screening in the first year. The Massachusetts experience demonstrates that SCID NBS is a program that can be implemented on a population basis with reasonable rates of false positives. 相似文献
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Chan K Davis J Pai SY Bonilla FA Puck JM Apkon M 《Molecular genetics and metabolism》2011,104(3):383-389
Objective
To evaluate the cost-effectiveness of universal neonatal screening for T cell lymphocytopenia in enhancing quality of life and life expectancy for children with severe combined immunodeficiency (SCID).Methods
Decision trees were created and analyzed to estimate the cost, life years, and quality adjusted life years (QALYs) across a population when universal screening for lack of T cells is used to detect SCID, as implemented in five states, compared to detection based on recognizing symptoms and signs of disease. Terminal values of each tree limb were derived through Markov models simulating the natural history of three cohorts: unaffected subjects; those diagnosed with SCID as neonates (early diagnosis); and those diagnosed after becoming symptomatic and arousing clinical suspicion (late diagnosis). Models considered the costs of screening and of care including hematopoietic cell transplantation for affected individuals. Key decision variables were derived from the literature and from a survey of families with children affected by SCID, which was used to describe the clinical history and healthcare utilization for affected subjects. Sensitivity analyses were conducted to explore the influence of these decision variables.Results
Over a 70-year time horizon, the average cost per infant was $8.89 without screening and $14.33 with universal screening. The model predicted that universal screening in the U.S. would cost approximately $22.4 million/year with a gain of 880 life years and 802 QALYs. Sensitivity analyses showed that screening test specificity and disease incidence were critical driving forces affecting the incremental cost-effectiveness ratio (ICER). Assuming a SCID incidence of 1/75,000 births and test specificity and sensitivity each at 0.99, screening remained cost-effective up to a maximum cost of $15 per infant screened.Conclusion
At our current estimated screening cost of $4.22/infant, universal screening for SCID would be a cost effective means to improve quality and duration of life for children with SCID. 相似文献6.
Young Hak Chung MD Jung-Sun Kim MD PhD Sung-Yun Lee MD PhD Eui Im MD Jong-Kwan Park MD Sanghoon Shin MD Jun-Won Lee MD PhD Seung Jun Lee MD PhD Sung-Jin Hong MD PhD Chul-Min Ahn MD PhD Byeong-Keuk Kim MD PhD Young-Guk Ko MD PhD Donghoon Choi MD PhD Myeong-Ki Hong MD PhD Yangsoo Jang MD PhD 《Catheterization and cardiovascular interventions》2021,98(4):E548-E554
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Bertrand Boisson Emmanuel Laplantine Kerry Dobbs Aurélie Cobat Nadine Tarantino Melissa Hazen Hart G.W. Lidov Gregory Hopkins Likun Du Aziz Belkadi Maya Chrabieh Yuval Itan Capucine Picard Jean-Christophe Fournet Hermann Eibel Erdyni Tsitsikov Sung-Yun Pai Laurent Abel Waleed Al-Herz Jean-Laurent Casanova Alain Israel Luigi D. Notarangelo 《The Journal of experimental medicine》2015,212(6):939-951
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