BackgroundMesenchymal stromal cell (MSC)‐mediated therapeutic effects have been observed in the treatment of lung diseases. For the first time, this treatment was used as rescue therapy in a pediatric patient with a life‐threatening respiratory syndrome associated with the filamin A (FLNA) gene mutation.MethodsA child with a new pathogenic variant of the FLNA gene c.7391_7403del (p.Val2464AlafsTer5), at the age of 18 months, due to serious and irreversible chronic respiratory failure, was treated with repeated intravenous infusions of allogeneic bone marrow (BM)‐MSCs. The child's respiratory condition was monitored. Immunologic studies before each MSC treatment were performed.ResultsNo acute adverse events related to the MSC infusions were observed. After the second infusion, the child's respiratory condition progressively improved, with reduced necessity for mechanical ventilation support. A thorax computed tomography (CT) scan showed bilateral recovery of the basal parenchyma, anatomical‐functional alignment and aerial penetration improvement. After the first MSC administration, an increase in Th17 and FoxP3+ T percentages in the peripheral blood was observed. After the second MSC infusion, a significant rise in the Treg/Th17 ratio was noted, as well as an increased percentage of CD20+/CD19+ B lymphocytes and augmented PHA‐induced proliferation.DiscussionMSC infusions are a promising therapeutic modality for patients in respiratory failure, as observed in this pediatric patient with an FLNA mutation. MSCs may have an immunomodulatory effect and thus mitigate lung injury; although in this case, MSC antimicrobial effects may have synergistically impacted the clinical improvements. Further investigations are planned to establish the safety and efficacy of this treatment option for interstitial lung diseases in children.
The myelodysplastic syndromes (MDSs) are a group of heterogeneous hematological disorders characterized by bilineage or trilineage dysplastic morphology, abnormal clonal populations, progressive bone marrow failure, and a high rate of transformation to acute myeloid leukemia. A combination of morphology, to detect multilineage dysplasia in the bone marrow and peripheral blood, and cytogenetics to detect characteristic clonal abnormalities, is used in establishing a diagnosis of MDS. Although diagnostic criteria are well established, a significant number of patients have blood and bone marrow findings that make diagnosis and classification difficult. Flow cytometric immunophenotyping is an accurate and highly sensitive method for quantitative and qualitative evaluation of hematopoietic cells in the different maturative compartments, and several groups have used flow cytometry in the study of MDSs. Findings of recent studies suggest that flow cytometry immunophenotyping might provide useful information in the diagnosis and the management of MDS patients.
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