Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references

Dias, Ana Luisa Abrahão; Silva, Raquel Gomes da; Cunha, Fernanda Gonçalves Pereira; Morcillo, André Moreno; Lorand‐Metze, Irene; Vilela, Maria Marluce dos Santos; Riccetto, Adriana Gut Lopes

doi:10.1111/apm.12932

Cited by 2 publications

(3 citation statements)

References 30 publications

(63 reference statements)

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“…Prompt PID diagnosis results in better use of health facilities, surveillance of the risk that PID patients can expose for society (e.g. reservoir of Poliovirus challenging the Polio Eradication program [115]) and has been demonstrated to result in lower healthcare costs overall [116].…”

Section: Expert Opinionmentioning

confidence: 99%

Global systematic review of primary immunodeficiency registries

Abolhassani

Azizi

Sharifi

et al. 2020

Expert Review of Clinical Immunology

102

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Introduction: During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear. Areas covered: Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients. Expert opinion: Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.

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Section: Expert Opinionmentioning

confidence: 99%

Global systematic review of primary immunodeficiency registries

Abolhassani

Azizi

Sharifi

et al. 2020

Expert Review of Clinical Immunology

102

View full text Add to dashboard Cite

show abstract

“…Finally, reduction in absolute numbers of CD4 + or CD8 + T cells was also rare in our patients, and not particularly informative. We are therefore inclined to agree with Dias and coworkers [17] that the enumeration of the above subpopulations can, as a screening test, hardly be cost-effective on a large scale.…”

Section: Discussionmentioning

confidence: 52%

“…Although lymphocyte immunophenotyping based on flow cytometry is a powerful tool in the diagnosis of many primary immunodeficiences, there has been an increasing awareness of associated costs and the need for its reassessment as a screening tool in the diagnosis of PID [17].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic significance of immunophenotyping of peripheral blood lymphocytes in pediatric patients from the Autonomous Province of Vojvodina, Republic of Serbia

et al. 2023

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Introduction/Objective. Although lymphocyte immunophenotyping based on flow cytometry is a powerful tool in the diagnosis of many primary immunodeficiences (PID), there has been an increasing awareness of associated costs and the need for its reassessment as a screening tool. We present the results and diagnostic impact of immunophenotyping performed by flow cytometry in the University Children?s Hospital, Belgrade, in a series of patients referred from the Institute for Child and Youth Health Care of Vojvodina from July 2008 to July 2018. Methods. We reviewed the laboratory reports on numbers of B lymphocytes (CD19+), T lymphocytes (CD3+), natural killer (NK) cells (CD3-CD16/CD56+) and activated T cells (CD3+HLA-DR+), as well as CD4+ and CD8+ T cells in 198 children. Results Patients were grouped by stated indication into the following eight categories: hypogammaglobulinemia (34), selective IgA deficiency and/or IgG subclass deficiency (43), various infections with no immunoglobulin deficiencies (67), asthma and/or allergies with no immunoglobulin deficiencies or infections (23), known or suspected autoimmune disorders (24), and miscellaneous diagnoses not accompanied by infections (7). In total, 159 (80.3%) findings were either completely within the respective reference range or exhibited only minimal aberrations. Four patients were diagnosed with Bruton?s disease and one with Artemis immunodeficiency. Nineteen patients were given immunoglobulin substitution to control infections and/or maintain immunoglobulin G levels. Conclusion. Lymphocyte immunophenotyping aids the diagnosis of PID in selected patients. We venture some thoughts on how the usefulness of this laboratory method could be improved in real-life tertiary care pediatric hospital settings.

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Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references

Cited by 2 publications

References 30 publications

Global systematic review of primary immunodeficiency registries

Global systematic review of primary immunodeficiency registries

Diagnostic significance of immunophenotyping of peripheral blood lymphocytes in pediatric patients from the Autonomous Province of Vojvodina, Republic of Serbia

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