Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

Buckley, Rebecca H.

doi:10.1007/s12026-010-8191-9

Cited by 196 publications

(140 citation statements)

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“…4,5 However, most publications described long-term outcome of the entire SCID cohort, irrespective of the genotypic and phenotypic diversity. [4][5][6][7][8][9] Detailed description of single-genotype cohorts is important because different donor sources and conditioning regimens, or use of hematopoietic stem cell infusion alone, may result in different outcomes, depending on the immunophenotype and genotype. 9,10 T-lymphocyte donor chimerism and reconstitution are generally good despite various types of conditioning and donor selection.…”

Section: Introductionmentioning

confidence: 99%

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report

Hamid

Slatter

McKendrick

et al. 2017

Blood

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Section: Introductionmentioning

confidence: 99%

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report

Hamid

Slatter

McKendrick

et al. 2017

Blood

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“…19,20 The survival rate after HSCT for RS-SCID or RS-CID has been reported to be lower in comparison to those with other genetic types of SCID and CID. 15,21 The impact of these newer pre-and posttransplantation regimens on survival rates relative to noneRS-SCID and noneRS-CID needs further evaluation. Furthermore, although HSCT treats these patients' immunodeficiency, these patients' somatic cells retain their DNA-repair defects and susceptibility to malignant transformation.…”

mentioning

confidence: 99%

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

Lobachevsky

Woodbine

Hsiao

et al. 2015

The Journal of Molecular Diagnostics

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Pediatric patients with severe or nonsevere combined immunodeficiency have increased susceptibility to severe, life-threatening infections and, without hematopoietic stem cell transplantation, may fail to thrive. A subset of these patients have the radiosensitive (RS) phenotype, which may necessitate conditioning before hematopoietic stem cell transplantation, and this conditioning includes radiomimetic drugs, which may significantly affect treatment response. To provide statistical criteria for classifying cellular response to ionizing radiation as the measure of functional RS screening, we analyzed the repair capacity and survival of ex vivo irradiated primary skin fibroblasts from five dysmorphic and/or developmentally delayed pediatric patients with severe combined immunodeficiency and combined immunodeficiency. We developed a mathematical framework for the analysis of g histone 2A isoform X foci kinetics to quantitate DNA-repair capacity, thus establishing crucial criteria for identifying RS. The results, presented in a diagram showing each patient as a point in a 2D RS map, were in agreement with findings from the assessment of cellular RS by clonogenic survival and from the genetic analysis of factors involved in the nonhomologous end-joining repair pathway. We provide recommendations for incorporating into clinical practice the functional assays and genetic analysis used for establishing RS status before conditioning. This knowledge would enable the selection of the most appropriate treatment regimen, reducing the risk for severe therapy-related adverse effects. Severe combined immunodeficiency (SCID) and combined immunodeficiency (CID) are rare genetic disorders. The incidence of SCID in Australia is 1 in 69,000 live births, 1 comparable to the reported incidence of 1 in 100,000 births worldwide. CID patients have increased susceptibility to invasive and opportunistic bacterial, viral, and fungal infections due to poor T-lymphocyte production and/or function, in addition to failure of B lymphocytes to generate functional antibodies. SCID is the extreme form of CID. Patients with this condition often present in the first year of life, with severe life-threatening infections, and consequently failure to thrive, requiring prompt intervention. SCID without treatment is usually fatal within the first year of life. 2 Both SCID and CID are genetically diverse syndromes, and over 50 molecular defects resulting in these syndromes have been described. 3 Approximately 30% of SCID patients have defects in V(D)J recombination (antigen receptor

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“…На сегодняшний день трансплантация гемопоэтических стволовых клеток (ТГСК) и генная терапияявляются наиболее обоснованными и оптимальными с точки зрения этиологического лечения ПИД [11,12]. Однако эффективность ТГКС значительно снижается, если диагноз выставлен на поздних этапах, когда у пациентов уже имеются тяжелые хронические инфекционные, аутоиммунные или злокачественные проявления [23,25].…”

Section: диагностика и терапия первичных иммунодефицитовunclassified

Primary immunodeficiency: modern approaches to diagnosis and therapy

et al. 2016

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By definition, primary immunodeficiencies (PID) are a large group of severe, genetically determined diseases, the cause of which is the violation of the cascade of the immune response of the body. A WHO scientific group to date have identified about 250 nosological forms of the PID, the International Union of Immunological societies (International Societies Union of Immunological) recognized the relationship of primary immunodeficiency with more than 270 genes; we identified over 4500 mutations. Data of the International Foundation for primary immunodeficiency (Account Modell Fondation) indicate that, on Earth at least 10 million people suffer from some form of PID. If we compare the data of the European indices with the number of inhabitants of the Republic of Kazakhstan, currently in our country should be at least 3000 patients with a congenital defect of the immune system, thus, by 2015, was registered in 34 patients with PID. The clinical picture of PID has different forms of manifestation, the main syndromes are: infectious, neoplastic, allergic and autoimmune syndromes. Strategy in the treatment of PID depends mainly on the nature of the gene defect and suggests maintenance therapy (substitution therapy with immunoglobulins) and causal treatment (bone marrow transplantation/hematopoietic stem cells, gene therapy).Keywords: primary immunodeficiencies -genetic diseases. ТұжырымдамаАнықтау бойынша, біріншілікті иммунодефициттер (БИД) -ауыр, генетикалық аурулардың үлкен тобы, олардың негізгі себебі иммундық жауаптыңкаскадын бұзылысы болып табылады. Халықаралық иммунологиялық қауымдастықтар одағы (International UnionofImmunological Societies) арқылы ДДСҰ тобы БИД нозологияларының 250 түрін анықтады, 270-ден астам гендермен имммунодефициттердің байланысы болып табылған; 4500 астам мутациялар анықталған. Халықаралық біріншілікті иммнодефициттер Фондының (Jeffry Modell Fondation) ақпараттары бойынша, әлемде кем дегенде 10 млн адам БИД түрлерімен ауырады. Қазақстан Республикасы тұрғындары санымен Еуропалық индекстерінің деректерді салыстырсақ, біздің елімізде қазіргі уақытта 2015 жылы, иммундық жүйесінің туа біткен ақауы бар, кем дегенде, 3000 науқас болуы тиіс, БИД 34 науқас тіркелген. БИД клиникалық көріністері әр-түрлі болып көрінеді, негізгі синдромдар: инфекционды, ісіктік, аллергиялық және аутоиммундық синдромдары. БИД терапия стратегиясы негізінен гендік ақауы сипатына байланысты және қолдау терапиясынан (иммуноглобулин ауыстыру терапиясы), және этиотроптық ем (сүйек кемігінің трансплантациясы / гемопоэтикалық дің жасушалары, гендік терапия) көздейді.Маңызды сөздер: біріншілікті иммунодефициттер -генетикалық аурулар.перВичные иммунодефициты: соВременные подходы В диАгностиКе и терАпии габдуллина д.м. РезюмеПо определению, первичные иммунодефициты (ПИД) -это многочисленная группа тяжелых, генетически обусловленных заболеваний, причиной которых становится нарушение каскада иммунного ответа организма. Научная группа ВОЗ к настоящему моменту выделила порядка 250 нозологических форм ПИД, Международным ...

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Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

Cited by 196 publications

References 67 publications

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

Primary immunodeficiency: modern approaches to diagnosis and therapy

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