Long-term follow-up of ninety eight Iranian patients with primary immune deficiency in a single tertiary centre

Nabavi, Mohammad; Arshi, Saba; Bemanian, Mohammad Hasan; Aghamohammadi, Asghar; Mansouri, Davood; Hedayat, Mona; Nateghian, Alireza; Noorbakhsh, Samileh; Ehsanipour, F; Faranoush, Mohammad; Shakeri, Ramin; Mesdaghi, Mehrnaz; Taghvaei, Behrang; Ghalebaghi, Babak; Babaie, Delara; Bahrami, Ahmad; Fallahpour, Morteza; Esmaeilzadeh, Hossein; Hamidieh, Amir Ali; Rekabi, Mahsa; Ahmadian, Javad; Eslami, Neda; Shokri, Sima; Afshar, Mehran; Jalali, Farhad; Akbarpour, Nadieh; Molatefi, Rasol; Rezaei, Nima

doi:10.1016/j.aller.2015.09.006

Cited by 16 publications

(14 citation statements)

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“…However, this prediction is likely to be an underestimation in countries with a high rate of consanguineous marriages, since more than 70% of known PID-associated genes have an autosomal recessive pattern of inheritance [1]. PID patients may present with a broad spectrum of clinical manifestations and immunological complications mainly during childhood [5,6]. Mutations in different PID genes may result in similar presentations; however, they may need also different management and therapeutic measures.…”

Section: Introductionmentioning

confidence: 99%

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

et al. 2018

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Background The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. Method The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and nextgeneration sequencing. Results Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

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Section: Introductionmentioning

confidence: 99%

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

et al. 2018

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“…Primary immunodeficiency diseases (PIDs) are a heterogeneous group of immune disorders that affect distinct components of the humeral and cellular arms of the immune system. PIDs are caused by hereditary or genetic defects, and, although some disorders present at birth or in early childhood, the disorders can affect everybody, regardless of age or gender [ 1 - 3 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency

Bazregari¹,

Azizi²,

Tavakol³

et al. 2017

cejoi

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IntroductionPrimary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic immune disorders. PID patients suffer from a variety of complications. The aim of this study was to determine the infectious and non-infectious complications among PID patients.Material and methodsThis retrospective cohort study was performed on recorded data of 202 PID patients who were diagnosed with eight major categories: common variable immunodeficiency (CVID), X-linked agammaglobulinemia, hyper-IgM syndrome, hyper IgE syndrome, chronic granulomatous disease (CGD), ataxia telangiectasia, hereditary angioedema and leukocyte adhesion deficiency. For all patients, infectious and non-infectious manifestations and laboratory data were collected in a comprehensive questionnaire.ResultsInfectious complications were more frequent than non-infectious complications. Pneumonia and otitis media were the main infectious problems in PID patients, especially in patients with antibody deficiencies. Among the non-infectious complications, splenomegaly and hepatomegaly were the most common complications in PID patients, and were more commonly seen in CGD patients than others. Splenomegaly, hepatomegaly and autoimmunity were the most common findings in CVID patients. A significant correlation was observed between diagnostic delay and bronchiectasis in CVID patients (p = 0.042).ConclusionsPID patients are at risk of multiple infectious and non-infectious problems. Timely diagnosis of PIDs not only improves their outcome and quality of life, but also helps prevent these troubling complications.

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“…Primary immunodeficiency diseases (PID) are a genetically heterogeneous group disorders that affect distinct components of both humoral and cellular arms of the immune system [1][2][3][4][5]. Overlapping signs and symptoms of these diseases is a challenge for diagnosis and treatment [6][7][8][9]. Awareness of the symptoms and considering the possibility of a PID in differential diagnosis as the diagnosis key in many cases, help to rapid recognition and more appropriate treatment of patients [10,11].…”

Section: Introductionmentioning

confidence: 99%

“…Awareness of the symptoms and considering the possibility of a PID in differential diagnosis as the diagnosis key in many cases, help to rapid recognition and more appropriate treatment of patients [10,11]. Timely recognition and treatment reduced mortality and increased lifespan and quality of life of the patients [6,[12][13][14][15]. For practitioners to memorize all effective criteria to diagnosis is difficult, so developing computerized program based on diagnosis criteria, improves significantly the quality of care [16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Development A Guideline-based Decision Support System to Diagnosis of Primary Immunodeficiency Diseases

Sepehri

Langarizadeh

Sharifi

et al. 2019

Front Health Inform

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Introduction: Primary immunodeficiency diseases (PID) are generally rare genetic disorders affecting the immune system. Overlapping PIDs symptoms and signs is a challenge to diagnosis and treatment. On the other hand, remembering of all diagnosis criteria is difficult for practitioners. The purpose of this research is developing guideline-based clinical decision support system for diagnosis of primary immune deficiency diseases, to assist practitioner in order to diagnose of disease in early stage and to minimize complications of such diseases.Material and Methods: To provide data a checklist was used and most important demographic information, symptoms, family history, physical findings and laboratory findings to diagnose eight common PIDs extracted from guidelines and literature under specialists opinion. The diagnosis inference model design and develop in Protégé (version 3.4.8) frame based ontology modeling using "Noy and McGuinness" method. Then the mobile based inference model in Eclipse (SDK version 3.7.1) software has been developed and clinical decision support system of primary immunodeficiency has been created.Results: To design the diagnosis inference model in Protégé software, data were classified in 5 main classes and 24 subclasses as hierarchical. Then, specific properties of each class, and determine the value of each property. Then define Instances of each class and initialized instance properties. Then use this model to develop CDSS based on mobile in Eclipse software. At the end, the inference model and the CDSS test with 110 patient’s record data and both of them recognized all 110 patient correctly such as specialist recognition.Conclusion:Guideline-based decision support systems help to detect diseases correctly, quickly and early. Guideline-based decision support systems are very reliable to practitioner, because guidelines are accepted to their. These systems reduce the forget probability of diagnosis stages and percentage error of diagnosis by practitioner and increase the accuracy of diagnosis.

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Long-term follow-up of ninety eight Iranian patients with primary immune deficiency in a single tertiary centre

Abstract: Physicians awareness of PID has been rising dramatically in Iran, ensuring an increasing number of patients being diagnosed and treated. More effective treatment services, including health insurance coverage and drug availability are needed to improve the outcome of PID patients.

Cited by 16 publications

References 32 publications

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency

Development A Guideline-based Decision Support System to Diagnosis of Primary Immunodeficiency Diseases

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