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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850577 | PMC |
| http://dx.doi.org/10.1016/j.jdcr.2021.09.047 | DOI Listing |
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Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
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October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
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Inborn Errors of Immunity in Early Childhood: Essential Insights for the Neonatologist.
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Department of Pediatrics, University Hospital Würzburg, Würzburg, Germany.
Background: Inborn errors of immunity (IEI), formerly referred to as primary immunodeficiencies, manifest with a wide range of symptoms such as increased susceptibility to infections, immune dysregulation, and autoinflammation. Although most cases manifest in childhood, onset during the neonatal period is rare but potentially critical.
Summary: In this review, we discuss the diverse clinical presentations of IEI and the specific challenges they pose to neonatologists.
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- Rashes in newborns are common and usually harmless, but infections should be considered if there are pustules or vesicles, especially if the baby appears unwell or has risk factors for infections.
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Autosomal recessive gene and consecutive collodion baby.
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