Clinical immunology Primary Immunodeficiency Diseases in two neighboring pediatric centers: registry data bring out a wide spectrum of diseases with complex clinical presentations

Pirrone, Angela; Markelj, Gašper; Piscianz, Elisa; Jeverica, Anja Koren; Valencic, Erica; Debeljak, Maruša; Tommasini, Alberto; Avčin, Tadej

doi:10.5114/ceji.2012.32727

Cited by 3 publications

(5 citation statements)

References 26 publications

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“…Leta 2012 so bili predstavljeni podatki iz tržaškega in slovenskega registra PID. 7 Namen nacionalnega registra PIP je spremljanje epidemioloških podatkov o posameznih PIP ter sodelovanje na področju prepoznave, diagnosticiranja in zdravljenja bolnikov. Zbrane podatke lahko primerjamo s stanjem v drugih državah, kjer vodijo nacionalne registre, in v širši mednarodni skupnosti.…”

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Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo

Blazina¹,

Markelj²,

Debeljak

et al. 2016

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Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo

Blazina¹,

Markelj²,

Debeljak

et al. 2016

SlovMedJour

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“…An interesting finding from our study is the relatively high rate of IEI patients presenting with neurodevelopmental delay and/or disability prior to any definitive treatment ( n = 15, 34.9%). Few other published cohorts have reported on neurodevelopmental complications, and those that have had lower rates, from 5% to 21% 22,29,30 . Further, these papers may be including manifestations that are not specifically neurodevelopmental, as one reported “neuropsychiatry” complications, 22 and another “CNS” as a system affected 30 .…”

Section: Discussionmentioning

confidence: 99%

“…IEIs are rare disorders, and collecting enough data to do large cohort analyses takes a significant amount of time. One approach to this is to collect data from multiple centers in large IEI registries, which some countries have successfully done 22,29,34 . Limiting our scope to genetically confirmed IEIs also limited the sample size, a trade‐off to ensure all of our patients truly had an IEI and to expand our understanding of the features of genetic IEIs specifically.…”

Section: Discussionmentioning

confidence: 99%

“…One approach to this is to collect data from multiple centers in large IEI registries, which some countries have successfully done. 22,29,34 Limiting our scope to genetically confirmed IEIs also limited the sample size, a trade-off to ensure all of our patients truly had an IEI and to expand our understanding of the features of genetic IEIs specifically. This is a needed addition to currently published cohorts and will increase the data available for future meta-analyses.…”

Section: It Presents a Broad Array Of Clinical Features Representing All Aspectsmentioning

confidence: 99%

“…Few other published cohorts have reported on neurodevelopmental complications, and those that have had lower rates, from 5% to 21%. 22,29,30 Further, these papers may be including manifestations that are not specifically neurodevelopmental, as one reported "neuropsychiatry" complications, 22 and another "CNS" as a system affected. 30 Yildirim et al 31 examined neurologic manifestations in IEIs, with a rate of approximately 2.5% for neurologic and 0.5% for neurodevelopmental complications.…”

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confidence: 99%

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Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing

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Modi

Bahrani

et al. 2021

Pediatric Allergy Immunology

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Inborn errors of immunity (IEIs), also known as primary immunodeficiencies (PIDs), are genetic disorders affecting immune system development and/or function. [1][2][3][4] They are best known for enhanced susceptibility to infections, but can also cause autoimmunity, malignancy, atopy, inflammation, and organ dysfunction. 5,6 IEIs include a wide spectrum of >430 genetically unique disorders, though they individually can be rare (eg, <1/1,000,000 in IPEX syndrome), 7,8 as a group IEI prevalence is 1:2000-1:10,000, with newer studies proposing as high as 1:1200. 9 In comparison, cystic fibrosis, a much more studied condition, has an estimated birth rate in Canada of

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Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry

et al. 2016

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An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed. The time of each manifestation onset was determined and compared with the time of PID diagnosis. As of May 2015, 247 patients with 50 different PIDs were registered in the Slovenian national PID registry (147 males, 100 females; mean age 20 years). Mean disease duration was 14 years; 78 % of patients were younger than 18 years; and 22 % of patients were adults. Diagnosis of PID was genetically confirmed in 51 % of patients. Non-infectious and non-malignant manifestations were present in 69/235 (29 %) patients, including autoimmune manifestations in 52/235 (22 %), lymphoproliferative/granulomatous in 28/235 (12 %), autoinflammatory in 12/247 (5 %), and allergic manifestations in 10/235 (4 %) of all registered patients. Autoimmune manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47 % of patients with chronic granulomatous disease, and 38 % of patients with predominantly antibody immune deficiencies. A high prevalence of non-infectious and non-malignant manifestations among patients in the Slovenian national PID registry suggests common genetic factors of autoimmunity, inflammation, and immunodeficiency. Patients with PID should be routinely screened for autoimmune and inflammatory manifestations at the time of PID diagnosis and during the long-term follow up.

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Clinical immunology Primary Immunodeficiency Diseases in two neighboring pediatric centers: registry data bring out a wide spectrum of diseases with complex clinical presentations

Abstract: In the last decades, the spectrum of primary immunodeficiency diseases (PIDs)

Cited by 3 publications

References 26 publications

Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo

Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo

Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing

Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry

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