Global systematic review of primary immunodeficiency registries

Abolhassani, Hassan; Azizi, Gholamreza; Sharifi, Laleh; Yazdani, Reza; Mohsenzadegan, Monireh; Delavari, Samaneh; Sohani, Mahsa; Shirmast, Paniz; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Kalantari, Arash; Tavakol, Marzieh; Jabbari‐Azad, Farahzad; Ahanchian, Hamid; Momen, Tooba; Sherkat, Roya; Sadeghi‐Shabestari, Mahnaz; Aleyasin, Soheila; Esmaeilzadeh, Hossein; Al‐Herz, Waleed; Bousfiha, Ahmed Aziz; Condino‐Neto, Antônio; Seppänen, Mikko; Sullivan, Kathleen E.; Hammarström, Lennart; Modell, Vicki; Modell, Fred; Quinn, Jessica; Orange, Jordan S.; Aghamohammadi, Asghar

doi:10.1080/1744666x.2020.1801422

Cited by 102 publications

(99 citation statements)

References 104 publications

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“…Our study shows an increase of 19.6% in the MENA region compared to 1961% in Australia, 64.0% in Latin America, and 32.7% in the USA [19]. Only 3.2% of IEI patients in the MENA countries present in adulthood; however, this rate is around 23.8% in ESID, 32.0% in USIDNET, and 36.1% in the global report of JMF [9,[19][20][21]23]. The mortality rate of IEI patients in the MENA region was 15.8% which is higher than the rate reported by USIDNET (8.7%) [23] and ESID (9.2%) [21].…”

Section: Discussionmentioning

confidence: 54%

“…We have recently reviewed systematically the IEI diagnosis globally (Table S3) [20]. The MENA-IEI registry of 17,120 patients is the second-largest regional registry after the ESID registry (n = 33,710), which overlaps with our registry in that it contains data from Iran, Egypt, and Turkey [21].…”

Section: Discussionmentioning

confidence: 99%

“…Extended author information available on the last page of the article 450 monogenic diseases (mainly with autosomal recessive inheritance) have been identified in patients with IEI [2][3][4], resulting in better management and treatment of these patients [5,6]. The majority of IEI patients are susceptible to recurrent severe infections causing significant morbidity and mortality.…”

Section: Introductionmentioning

confidence: 99%

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Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

et al. 2021

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Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.

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Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

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“…9 It is estimated that a large number of primary immune deficient patients remain undiagnosed due to the low awareness of primary immunodeficiency (PID) and lack of population-based screening. 10 Hence, the registry statistics do not provide the actual prevalence of immunodeficient patients.…”

Section: Methodsmentioning

confidence: 99%

Acute pericarditis: A peculiar manifestation of common variable immune deficiency

Ramzi

Yazdani

Talakoob

et al. 2021

aei

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Common variable immune deficiency (CVID) is known as the most prevalent symptomatic inborn error of immunity associated with autoimmune and inflammatory complications in addition to recurrent infections. In this study, we investigated the prevalence of acute pericarditis as a complication in the past medical history of 337 CVID patients. We found five patients (1.5%) that had experienced acute pericarditis, and described the medical history of three patients.

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“…Результаты проведенного исследования показали, что частота распространенности ПИДЗ в Чувашии составляет 3,4:100 000, что укладывается в диапазон распространенности ПИДЗ в европейских странах, составляющий от 1,3 до 5, согласно Европейскому Регистру первичных иммунодефицитов [4]. Заболеваемость наиболее распространенной формы ПИДЗ в Чувашии -ОВИН с клиническими проявлениями заболевания составила 1,58 на 100 000 населения, что соответствует общеизвестным данным о распространенности данного заболевания [6,19].…”

Section: Discussionunclassified

Republican registry of primary immune deficiencies in the chuvash republic and description of postvaccinal immunity disorders in a pregnant patient with common variable immune deficiency

et al. 2021

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In recent years, primary immunodeficiencies have turned from the class of rare diseases to the category of more common disorders which may be encountered by doctors of any clinical discipline. The first case of primary immunodeficiency disorder (PID) in Chuvashia was detected in 1993. Since that time, the Department of Internal Diseases with the Course of Clinical Immunology at the I. Ulyanov Chuvash State University registered all the cases of PID diagnosed in the region, introducing them into the Republican Registry of PID. The study was aimed for searching epidemiological indexes, clinical and laboratory manifestations of PID in Chuvash region. The study was based on the patient data obtained by retrospective analysis of 85 case histories of PID patients, treated at different departments of the Republican Clinical Hospital, and the City Chuvash Pediatric Clinical Hospital of Public Health Ministry in 2000-2019, as well as on 49 outpatient records of the patients included into the Regional PID Registry. Various forms of PIDs were diagnosed according to the criteria developed by the European Society for Immunodeficiency and the Pan-American Group on Immunodeficiency (1999). The results of this study showed that the incidence of PID in the Chuivash Region is 3.4:100,000. The incidence of common variable immune deficiency (CVID), the most common form of PID in the region, was 1.58 per 100,000 population. The average age at the time of CVID diagnosis in Chuvash patients was 30.4±16.1 years, and the age of CVID debut was 11.3±15.0 years. The delay in proper diagnosis from the moment of clinical manifestation of CVID was, on average, 17.9 years in the region. At the time of CVID diagnosis, the patients showed marked decrease in the levels of 3 or 2 immunoglobulin classes (IgG and IgA), and T-helper cell contents (CD3+CD4+) in peripheral blood. Prevalence of selective IgA deficiency with сlinical symptoms was 0.83 per 100,000 population of the region, and the incidence of the asymptomatic form of this PID was 1 : 167. In patients with selective IgA deficiency, there were also disorders in the T cell system manifesting as decreased relative number of cytotoxic T-cells as well as elevated IgG and IgM levels. The age of diagnosis of X-linked agammaglobulinemia in the region was 3.5±3.0 years. In addition to disturbances of humoral adaptive immunity in children with this disease, a decrease in absolute T cell numbers was detected. In conclusion, the article describes disturbances of postvaccinal immunity in a pregnant patient with CVID, with asymptomatic clinical course, thus leading to false interpretation of the serological markers of TORCH infections and wrong strategy of pregnancy management.

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Global systematic review of primary immunodeficiency registries

Cited by 102 publications

References 104 publications

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Acute pericarditis: A peculiar manifestation of common variable immune deficiency

Republican registry of primary immune deficiencies in the chuvash republic and description of postvaccinal immunity disorders in a pregnant patient with common variable immune deficiency

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