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Patient Case Conference

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Monthly Patient Case Video Conferences

Initiated in 2014. 1st Tuesday or Thursday of each month, 12:30p-1:30p EST

Case based format:

•Well defined phenotypes/genotypes with cross-disciplinary manifestations

•Unknown diagnosis with time-sensitive clinical queries

To join click below to send us an email.

NICER Case Conference Aug. 8, 2019
01:00:00
Congenital/Hereditary TTP
39:21
1987381a 1
01:00:26
TREC'ing through the Era of Newborn SCID Screening: Peaks, Pitfalls, and How to Move Forward
42:05

TREC'ing through the Era of Newborn SCID Screening: Peaks, Pitfalls, and How to Move Forward

1.https://www.accessdata.fda.gov/drugsatfda_docs/label/2008/019818s042lbl.pdf 2.Shibata F, Toma T, Wada T, et al. Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. Eur J Haematol. 2007;79(1):81–85. doi:10.1111/j.1600-0609.2007.00874.x 3.Roifman CM, Zhang J, Atkinson A, Grunebaum E, Mandel K. Adenosine deaminase deficiency can present with features of Omenn syndrome. J Allergy Clin Immunol. 2008;121(4):1056–1058. doi:10.1016/j.jaci.2007.12.1148 4.https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/761092s000lbl.pdf 5.Kohn DB, Hershfield MS, Puck JM, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019;143(3):852–863. doi:10.1016/j.jaci.2018.08.024 6.Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019;287(1):241–252. doi:10.1111/imr.12729 7.Douek DC, McFarland RD, Keiser PH, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature. 1998;396(6712):690–695. doi:10.1038/25374 8.Amatuni GS, Currier RJ, Church JA, et al. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019;143(2):e20182300. doi:10.1542/peds.2018-2300 9.Tapke et al , JACI 2018 10.Borte S, von Döbeln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119(11):2552–2555. doi:10.1182/blood-2011-08-371021 11.Barbaro M, Ohlsson A, Borte S, et al. Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. J Clin Immunol. 2017;37(1):51–60. doi:10.1007/s10875-016-0347-5 12. Nakagawa N, Imai K, Kanegane H, et al. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128(1):223–225.e2. doi:10.1016/j.jaci.2011.01.052 13. de Felipe B, Olbrich P, Lucenas JM, et al. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville. Pediatr Allergy Immunol. 2016;27(1):70–77. doi:10.1111/pai.12501 14. Speckmann C, Neumann C, Borte S, et al. Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. J Allergy Clin Immunol. 2012;130(4):991–994. doi:10.1016/j.jaci.2012.04.004 15.Hassan A, Booth C, Brightwell A, et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood. 2012;120(17):3615–3626. doi:10.1182/blood-2011-12-396879 16.Hönig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595–3602. doi:10.1182/blood-2006-07-034678 17.Cicalese MP, Ferrua F, Castagnaro L, et al. Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety. Mol Ther. 2018;26(3):917–931. doi:10.1016/j.ymthe.2017.12.022 18.South E, Cox E, Meader N, Woolacott N, Griffin S. Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. Pharmacoecon Open. 2019;3(2):151–161. doi:10.1007/s41669-018-0102-3
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