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Background: Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency. The disorder is characterized by hypoplastic or aplastic thymus, hypocalcemia, recurrent infections, and other associated congenital defects. . We report an eleven-month-old infant presenting with recurrent chest and diarrheal infections, failure to thrive, lymphopenia, hypocalcemia, and hypoplastic thymus on imaging. A diagnosis of DiGeorge syndrome was confirmed after determining very low CD3 and CD4 levels.
Conclusions: We describe the first case report of an Ethiopian child with a congenital T-cell immunodeficiency. We have outlined essentials for diagnosis and management of cellular primary immunodeficiency disorders in low resource settings.
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http://dx.doi.org/10.1155/2020/8157212 | DOI Listing |
Transl Psychiatry
August 2025
Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
The chromosome 15q11.2 locus is deleted in 1.5% of patients with genetic epilepsy and confers a risk for intellectual disability and schizophrenia.
View Article and Find Full Text PDFGenes (Basel)
July 2025
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
: Miscarriage is an increasingly common event worldwide arising from various factors, and identifying its etiology is important for planning and managing any future pregnancies. It is estimated that about half of early pregnancy loss cases are caused by genetic abnormalities, while a significantly lower rate is found in late pregnancy loss. Multiplex ligation-dependent probe amplification (MLPA) can detect small changes within a gene with precise breakpoints at the level of a single exon.
View Article and Find Full Text PDFbioRxiv
August 2025
Neural Crest Development and Disease Unit, National Institute of Dental and Craniofacial Research, Intramural Research Program, National Institutes of Health, Bethesda, USA.
Neurocristopathies account for half of all birth defects and several cancers highlighting the need to understand early neural crest (NC) development, for which suitable human models don't exist. Here, we present a pluripotent-stem-cell-based 3D ectodermal organoid model that faithfully recapitulates early ectodermal patterning of future central nervous system, epidermis and cranial and trunk NC, as well as a diverse selection of NC derivatives -offering a comprehensive platform to study neurocristopathies from early induction of pluripotent-like stem cells at the neural plate border to differentiated cells. DiGeorge syndrome (DGS) is caused by a hemizygous microdeletion of ~fifty genes, many of which play broad roles during embryogenesis.
View Article and Find Full Text PDFBMJ Case Rep
August 2025
Department of Neonatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Hypocalcaemia is a common metabolic abnormality in neonates, with distinct causes based on the timing of onset. Early-onset hypocalcaemia (within 72 hours of life) is typically related to transitional physiology, prematurity, perinatal asphyxia or maternal diabetes. In contrast, late-onset hypocalcaemia (after 72 hours) is less common and may result from high phosphate intake, cow's milk-based formulas, vitamin D deficiency or resistance, maternal vitamin D deficiency, hypoparathyroidism (eg, DiGeorge syndrome), magnesium deficiency or activating mutations in the calcium-sensing receptor.
View Article and Find Full Text PDFSci Transl Med
August 2025
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Maintenance of blood-brain barrier (BBB) integrity is critical to optimal brain function, and its impairment has been linked to multiple neurological disorders. A notable feature of the BBB is its elevated mitochondrial content compared with peripheral endothelial cells, although the functional implications of this phenomenon are unclear. Here, we studied BBB mitochondrial function in the context of 22q11.
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