Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T-and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival. In Ukraine, the expansion of hemostatic stem cell transplantation and the development of a registry of bone marrow donors in the last few years have created opportunities for early correction of IEI and improving the quality and life expectancy of children with SCID. For the first time in Ukraine, we initiated a pilot study on newborn screening for severe combined immunodeficiency and T-cell lymphopenia by determining T cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). The analysis of TREC and KREC was performed by real-time polymerase chain reaction (RT-PCR) followed by analysis of melting curves in neonatal dry blood spots (DBS). The DBS samples were collected between May 2020 and January 2022. In total, 10,350 newborns were screened. Sixty-five blood DNA samples were used for control: 25 from patients with ataxia-telangiectasia, 37 -from patients with Nijmegen breakage syndrome, 1with X-linked agammaglobulinemia, 2with SCID (JAK3 deficiency and DCLRE1C deficiency). Retest from the first DBS was provided in 5.8% of patients. New sample test was needed in 73 (0.7%) of newborns. Referral to confirm or rule out the diagnosis was used in 3 cases, including one urgent abnormal value. CID (T low B+NK+) was confirmed in a patient with the urgent abnormal value. The results of a pilot study in Ukraine are compared to other studies (the referral rate 1: 3,450). Approbation of the Frontiers in Immunology frontiersin.org 01
Background. Enteroviral infections are common infections, mostly affect children. Nail changes of enteroviral infection including transverse ridging (Beau's lines) and nail shedding (onychomadesis) were described in many countries worldwide.Objective.
Conclusions. Our study proved association between the outbreak of onychomadesis (nail shedding) and enteroviral infection, mainly hand-foot-mouth disease, during summer-autumn 2016 in Western Ukraine (Ternopil region). Enteroviral infection was followed by onychomadesis in 4-12 weeks. Clinical features of enteroviral infection were very variable, with prevalence of cutaneous lesions.More studies are necessary to determine the serotype of the virus that causes onychomadesis.
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