ArticleBritish journal of haematology2022
Peripheral-blood cytopenia, an early indicator of inborn errors of immunity.
Article in British journal of haematology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Review
- A descriptive analysis of autoimmune cytopenias in children with inborn errors of immunity.Paediatrics & child health · 2025Article
- Thrombocytopenia in patients with inborn errors of immunity.BMC immunology · 2025Article
- A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists.Frontiers in immunology · 2025Article
- Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.Clinical case reports · 2023Article
- Peripheral-blood cytopenia, an early indicator of inborn errors of immunity.British journal of haematology · 2022Article
- Chronic neutropenia in childhood: experience of a tertiary center.Jornal de pediatriaObservational
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of immunity (IEI) are inherited monogenic disorders resulting in defective immune response. Non-infectious presentations are increasingly more apparent. Widely available, cost-effective early indicators are needed. Peripheral-blood cytopenia may be a presenting laboratory feature or an observed secondary phenomenon. This retrospective review of the South African Primary Immunodeficiency Registry (SAPIDR) aimed to assess the haematological indices at presentation and their association with the International Union of Immunological Societies (IUIS) 2019 IEI classification and mortality. Of 396 patients on the SAPIDR, 66% (n = 257) had available haematological results. Sixty percent were males and 85% under 18 years. A majority (53%) had predominantly antibody deficiency. At presentation, infection was prominent (86%) followed by cytopenia (62%). Neutropenia was associated with IUIS III [odds ratio (OR) 3.65, confidence interval (CI) 1.44-9.25], thrombocytopenia with IUIS II (OR 14.39, CI 2.89-71.57), lymphopenia with IUIS I (OR 12.16, CI 2.75-53.73) and pancytopenia with IUSI I (OR 12.24, CI 3.82-39.05) and IUIS II (OR 5.99, CI 2.80-12.76). Cytopenia showed shorter overall survival (OR 2.81, CI 1.288-4.16). Cytopenias that are severe, persistent, unusual and/or recurrent should prompt further investigation for IEI. The full blood count and leucocyte differential may facilitate earlier identification and serve as an adjunct to definitive molecular classification.
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