![]() Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. 2012 11:723–30.Īl-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME, Cunningham-Rundles C, et al. ![]() ![]() Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome. Lev A, Simon AJ, Amariglio N, Rechavi G, Somech R. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, Langdon S, et al. T-cell repertoire diversity and clonal expansions in normal and clinical samples. The mechanism and regulation of chromosomal V (D) J recombination. Recombination centres and the orchestration of V (D) J recombination. Overview of methodologies for T-cell receptor repertoire analysis. Rosati E, Marie Dowds C, Liaskou E, Henriksen EKK, Karlsen TH, Franke A. TREC Based newborn screening for severe combined immunodeficiency disease: a systematic review. Van der Spek J, Groenwold RHH, van der Burg M, van Montfrans JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017. 2012 129:597–604 quiz 605–6.Īmatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA-C, et al. The long quest for neonatal screening for severe combined immunodeficiency. Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome. Kuo CY, Chase J, Garcia Lloret M, Stiehm ER, Moore T, Aguilera MJM, et al. Development of population-based newborn screening for severe combined immunodeficiency. T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation. Hazenberg MD, Verschuren MC, Hamann D, Miedema F, van Dongen JJ. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. ![]() Verschuren MC, Wolvers-Tettero IL, Breit TM, Noordzij J, van Wering ER, van Dongen JJ. Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. Wahlstrom J, Patel K, Eckhert E, Kong D, Horn B, Cowan MJ, et al. Limited T cell receptor diversity of transplacentally acquired maternal T cells in severe combined immunodeficiency. Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency. Lev A, Simon AJ, Ben-Ari J, Takagi D, Stauber T, Trakhtenbrot L, et al. Cutaneous manifestations of maternal engraftment in patients with severe combined immunodeficiency: a clinicopathologic study. 2016 145:251–7.ĭenianke KS, Frieden IJ, Cowan MJ, Williams ML, McCalmont TH. Maternal T-cell engraftment interferes with human leukocyte antigen typing in severe combined immunodeficiency. Liu C, Duffy B, Bednarski JJ, Calhoun C, Lay L, Rundblad B, et al. Co-expression of the CD45RA and CD45RO antigens on T lymphocytes in chronic arthritis. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. ![]() Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 1950 175:1–32.īuckley RH, Schiff RI, Schiff SE, Louise Markert M, Williams LW, Harville TO, et al. Ein neues Krankheitsbild aus der Sauglingspathologie. Future guidelines will need to incorporate a mutation-specific approach to optimize HSCT parameters and gene therapy recommendations so personalized medical care to SCID patients can be provided. Advances in molecular biology have led to the development of novel genetic therapies for particular subtypes of SCID, notably adenosine deaminase (ADA) deficiency, which provide promising ways to address many of these challenges. Despite these diagnostic and therapeutic tools, significant challenges remain such as normalizing thresholds for newborn screening, preventing peri-transplant infection, choosing conditioning regimens that balance toxicity with immunosuppression, post-transplant monitoring, and addressing the quality-of-life and social needs of SCID patients and their families. The establishment of universal newborn screening (NBS) for SCID and optimization of hematopoietic stem cell transplantation (HSCT), the curative treatment for SCID, have led to improved detection and early treatment of patients with SCID, which has significantly reduced morbidity and mortality. SCID is fatal without treatment due to the development of severe, recurrent infections. Severe combined immunodeficiencies (SCID) are a heterogeneous group of rare, genetic diseases resulting in profoundly impaired adaptive immune responses. ![]()
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