Alagille Syndrome
Genetic and congenital

Pediatric bone marrow failure may be linked to underlying primary immunodeficiency

Posted on July 26, 2020
Pediatric bone marrow failure may be linked to underlying primary immunodeficiency

Patients with single lineage or multilineage bone marrow failure may have an underlying primary immunodeficiency (PID), according to a presentation by Maurizio Miano, MD at the Virtual Edition of the 25th European Hematology Association (EHA) Annual Congress.

Dr Miano said that all patients with bone marrow failure should undergo an accurate immunological work-up and that screening should look for PIDs-related genes.

In this retrospective study, 97 patients with single-lineage (30%) or multi-lineage (70%) bone marrow failure included. Overall, 17% of patients were found to have an underlying PID, 9 of which had the overlapping bone marrow failure/PID phenotype showing multilineage failure.

Reference
Miano M, et al. Genetic screening of children with bone marrow failure: the role of primary immune-deficiencies. Presented at: 2020 European Hematology Association (EHA) Annual Congress. Available at: https://library.ehaweb.org/eha/2020/eha25th/295014/maurizio.miano.genetic.screening.of.children.with.bone.marrow.failure.the.role.html?f=menu%3D6%2Abrowseby%3D8%2Asortby%3D2%2Amedia%3D3%2Ace_id%3D1766%2Aot_id%3D23229%2Amarker%3D756