Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation

Modell, Vicki; Gee, Bonnie; Lewis, David B.; Orange, Jordan S.; Roifman, Chaim M.; Routes, John M.; Sorensen, Ricardo U.; Notarangelo, Luigi D.; Modell, Fred

doi:10.1007/s12026-011-8241-y

Cited by 141 publications

(104 citation statements)

References 16 publications

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“…Early diagnosis of PID is critical so life-saving treatment and precautions can be implemented [3,4]. Despite advances in diagnosis and treatment, patients may still suffer from serious complications and premature death caused by delay in diagnosis, seriousness of the disease, or inadequate treatment.…”

Section: Introductionmentioning

confidence: 99%

Survival and Predictors of Death Among Primary Immunodeficient Patients: A Registry-Based Study

Al‐Herz

Moussa

2011

J Clin Immunol

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Section: Introductionmentioning

confidence: 99%

Survival and Predictors of Death Among Primary Immunodeficient Patients: A Registry-Based Study

Al‐Herz

Moussa

2011

J Clin Immunol

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“…Это связано с тем, что ПИД считаются достаточно редкими и сложными заболеваниями. Однако, по данные Международного Фонда первичных иммунодефицитов (Jeffry Modell Fondation) свидетельствуют о том, что на Земле, как минимум, 10 млн человек страдают той или иной формой ПИД [3,13].…”

Section: распространенность 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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“…The burden of PIDs on an individual or country level necessitates strategic planning to prevent them or reduce their prevalence [49] . The burdens vary between the different forms of PIDs but are higher in cases of CID, which are more common in countries with high rates of consanguineous marriage.…”

Section: Prenatal Diagnosis and Genetic Counselingmentioning

confidence: 99%

Consanguinity and Primary Immunodeficiencies

et al. 2014

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Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families.

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Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation

Cited by 141 publications

References 16 publications

Survival and Predictors of Death Among Primary Immunodeficient Patients: A Registry-Based Study

Survival and Predictors of Death Among Primary Immunodeficient Patients: A Registry-Based Study

Primary immunodeficiency: modern approaches to diagnosis and therapy

Consanguinity and Primary Immunodeficiencies

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