Primary immunodeficiencies: a diagnostic challenge?

Solé, Dírceu

doi:10.1016/j.jped.2020.12.002

Cited by 2 publications

(3 citation statements)

References 8 publications

(13 reference statements)

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“…Autoimmune cytopenia, haemogram and peripheral blood film have been reported as PIDs diagnostic markers and tests, respectively [4,10 ▪▪ ]. In fact, our data from the paediatric clinics show that CBC and immunoglobulin profile tests may be a less expensive alternative for early PID diagnosis, including Bruton's and severe combined immunodeficiency (SCID), for Uganda and other low-income countries.…”

Section: Ideas For Diagnosing Primary Immunodeficiencies In Ugandamentioning

confidence: 90%

“…It is now established that early–appropriate PID diagnosis leads to the best treatment options at low costs, and, quality of the patients as well as productivity of the caretakers [3,4,5 ▪▪ ,6]. However, a recent report shows that accessibility and affordability of both diagnostics and treatment for PIDs are still uneven globally [7 ▪▪ ].…”

Section: Challenges In the Diagnosis Of Primary Immunodeficiencies In...mentioning

confidence: 99%

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Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Barugahare

2022

Current Opinion in Pediatrics

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Purpose of reviewPrimary immunodeficiencies (PIDs) lately referred to as inborn errors of immunity, are consequences of mutations that affect the immune integrity and function. Globally, severe PIDs are more common in infants and are fatal if not timely – appropriately diagnosed and managed. PID programmes and policies vary from country to country. The purpose of this review is to highlight PIDs initiatives and activities in Uganda with a focus on challenges and ideas for diagnosis.Recent findingsIt is now established that appropriate PID diagnosis leads to best treatment options for quality of life for the patients. However, there are still global disparities with these great milestones. PID awareness remains a fundamental global challenge. Autoimmune cytopenia, haemogram and peripheral blood film may be critical PIDs diagnostic markers and tests, respectively, for low-income countries.SummaryAs awareness is a master key to appropriate PID diagnosis and management, there is a need to design multidisciplinary and sustainable strategies. Complete blood counts and immunoglobulin profile tests may be less expensive alternatives for early diagnosis of PIDs in Uganda and other low-income countries.

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Section: Ideas For Diagnosing Primary Immunodeficiencies In Ugandamentioning

confidence: 90%

Section: Challenges In the Diagnosis Of Primary Immunodeficiencies In...mentioning

confidence: 99%

Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Barugahare

2022

Current Opinion in Pediatrics

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“…Family history, as well as personal and clinical data, are considered a core element of patient initial management. Extensive anamnesis and clinical evaluation are the main tools for a suspected diagnosis of IEI [ 4 ]. The early diagnosis of IEI can be life-saving but remains challenging due to the low prevalence of these pathologies.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

Pieniawska-Śmiech

Pasternak

Lewandowicz-Uszyńska

et al. 2022

JCM

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Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders (PIDs), are inherited disorders caused by damaging germline variants in single genes, which result in increased susceptibility to infections and in allergic, autoimmune, autoinflammatory, nonmalignant lymphoproliferative, and neoplastic conditions. Along with well-known warning signs of PID, attention should be paid to signs of immune dysregulation, which seem to be equally important to susceptibility to infection in defining IEI. The modern diagnostics of IEI offer a variety of approaches but with some problems. The aim of this review is to discuss the diagnostic challenges in IEI patients in the context of an immune dysregulation background.

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Primary immunodeficiencies: a diagnostic challenge?

Cited by 2 publications

References 8 publications

Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

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