Primary Immunodeficiencies: Diseases of Children and Adults – A Review

Lewandowicz-Uszyńska, Aleksandra; Pasternak, Gerard; Świerkot, Jerzy; Bogunia‐Kubik, Katarzyna

doi:10.1007/5584_2020_556

Cited by 10 publications

(8 citation statements)

References 81 publications

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“…The frequency of PIDs in the European Union is estimated to be 1/10,000 people [ 5 ]. However, experts suggest that the real frequency of those diseases is much higher [ 6 ]. The prevalence of PIDs in the general population in Turkey is not clearly known.…”

Section: Discussionmentioning

confidence: 99%

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Primary Antibody Deficiencies With Pulmonary Complications: A Single-Center Experience

Özden¹,

Deniz²,

Çetinkaya³

2022

Cureus

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Section: Discussionmentioning

confidence: 99%

“…The prognosis is better with the diagnosis and treatment of PIDs in childhood. However, it is assumed that 25%-40% of all PIDs are diagnosed in adults [ 6 ]. In this study, the mean age of diagnosis of PID was found to be 28.90 years.…”

Section: Discussionmentioning

confidence: 99%

Primary Antibody Deficiencies With Pulmonary Complications: A Single-Center Experience

Özden¹,

Deniz²,

Çetinkaya³

2022

Cureus

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“…The modern diagnostics of IEI include various diagnostic measures, such as a simple blood count with particular attention paid to the total absolute lymphocyte count, the serum immunoglobulin levels, and the complete sequencing of the exome or genome [ 9 ]. However, during the clinical evaluation of a patient with suspected or confirmed IEI, we should be aware of the possible problems and finer points that may restrict diagnosis in patients with IEI.…”

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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“…Immune dysregulation is a term used to characterize an array of autoimmune and inflammatory conditions [4]. In practice, IEI are associated with increased susceptibility to infection (especially severe, atypical, and/or recurrent infections), autoimmunity, allergy, and malignancy [3,5]. Immune dysregulation seems to be as important as susceptibility to infection in defining inborn errors of immunity nowadays.…”

Section: Introductionmentioning

confidence: 99%

Serum Allergen-Specific IgE among Pediatric Patients with Primary Immunodeficiency

et al. 2022

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Background: Allergy is a clinical condition that reflects a deviated function of the immune system. The purpose of this study was to evaluate serum allergen-specific IgE (sIgE) along with clinical manifestations of allergy in patients with diagnosed primary immunodeficiency (PID). Methods: 72 patients, aged 1–17 years, diagnosed with PID and hospitalized between July 2020 and February 2021 were included in the study. Blood samples were obtained by venipuncture. sIgE (30 allergens), blood eosinophil count, as well as total IgE and IgG were measured and assessed in relation to a detailed medical examination. Results: Serum sIgE was detected in the blood of 50% of the patients in the study group, which significantly correlated (p < 0.0001) with clinical symptoms of allergy. During the period of the study, 61.1% of the patients showed symptoms of allergy, with 77.27% of them having tested positive for sIgE. The total IgE level was elevated in 18.06% of the patients and correlated with clinical symptoms of allergy (p = 0.004). An elevated total IgE level was not observed in children receiving immunoglobulin replacement therapy. Conclusion: The study showed that serum sIgE and total IgE together might be a plausible diagnostic tool for PID patients. However, for patients receiving immunoglobulin replacement therapy, the assessment of total IgE is not useful.

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Primary Immunodeficiencies: Diseases of Children and Adults – A Review

Cited by 10 publications

References 81 publications

Primary Antibody Deficiencies With Pulmonary Complications: A Single-Center Experience

Primary Antibody Deficiencies With Pulmonary Complications: A Single-Center Experience

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

Serum Allergen-Specific IgE among Pediatric Patients with Primary Immunodeficiency

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