Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

Arch Pediatr. 2022 Aug;29(6):415-423. doi: 10.1016/j.arcped.2022.05.003.

PMID: 35705384

S Kilavuz, D Kor, F D Bulut, M Serbes

Highlights: It should be borne in mind that cardiac and pulmonary involvement, as well as immune dysfunction in LSDs, may cause an increased need for intensive care because of secondary bacterial infections.

Abstract:

Background: Lysosomal storage disorders (LSDs) and COVID-19 both result in the release of cytokines in a pattern that is similar, suggesting that they share a common immunological route. Our objectives were to assess the level of immunity and determine how COVID-19 affected patients with LSDs.

Results: The median age of 110 LSD patients was 129 months (range: 21–655), and all but one MPS type III patient had regular enzyme replacement therapy (ERT). An abnormality in at least one of the autoimmunity or immunodeficiency parameters was reported in 53.6% (n = 56) of the patients, including 23 patients with Gaucher disease (10 type III, 13 type I), 26 patients with MPS (8 type VI, 11 type IVA, 1 type III, 3 type II, and 3 type I), and 7 patients with Pompe disease. In addition, anomalies in at least one immunodeficiency-related parameter were found in 12 (57%) of 21 Gaucher cases (7 type III, 5 type I), 18 (40.9%) of 44 MPS cases (9 type IVA, 5 type VI, 1 type I, 2 type II, and 1 type III), and six (66%) of nine Pompe cases. Lower immunoglobulin (Ig) M and IgA levels, as well as aberrant lymphocyte numbers and subgroups, were noted in the MPS group. ANA was reported to be positive in one patient with Gaucher type III, anti-DNA in two patients with Gaucher type I and one patient with MPS type VI, antithyroglobulin in two patients with Gaucher type I, anti-TPO in one patient with Gaucher type I, TRAB in one patient with Gaucher type I, antiphospholipid IgM in three patients with Gaucher type III and one patient with Gaucher type I, anticardiolipin IgM in one patient with Gaucher type I, one patient with Gaucher type III, and one patient with MPS type II. With the exception of one patient with Gaucher type I disease and Hashimoto thyroiditis, no clinical manifestation, however, was consistent with the laboratory findings. Gaucher type I was identified in two of the four individuals who managed to survive the COVID-19 infection with just mild symptoms, and no abnormalities were seen in their laboratory tests. The MPS types VI and II were identified in the other two cases. The patient with MPS type II was found to have immune dysfunction. Four of our patients were discharged without any sequelae.

Conclusion: Immunity issues did not have any discernible clinical effects. Having fewer social interactions may have contributed to being well protected. However, it's important to keep in mind that in LSDs, immunological dysfunction, as well as cardiac and pulmonary involvement, may result in a greater requirement for intensive care due to secondary bacterial infections.

Keywords: Autoimmunity, COVID-19, Gaucher, Immunodeficiency, MPS, Pompe