Erythroderma in a newborn infant suggesting Omenn syndrome
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چکیده
منابع مشابه
A Newborn Infant with a Pulsatile Substernal Structure in a Midline Defect; Cantrell's Syndrome
The present report describes a male newborn with a pulsatile structure beneath the sternum. Echocardiography showed common atrium, a single ventricle, mitral atresia, double outlet right ventricle, subpulmonary stenosis, small pulmonary artery branches, and a thin walled ventricular diverticulum suggestive of Cantrell's syndrome. The diverticulum was resected to prevent life threatening events ...
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A dynamic mathematical model is presented which successfully simulates the respiratory control system of the newborn infant in different physiological conditions. The primary objective in constructing this model has been to provide a simulation aid in the investigation of maturation of the respiratory system, and the respiratory disorders during the newborn period, without the need for invasive...
متن کاملa newborn infant with a pulsatile substernal structure in a midline defect; cantrell's syndrome
the present report describes a male newborn with a pulsatile structure beneath the sternum. echocardiography showed common atrium, a single ventricle, mitral atresia, double outlet right ventricle, subpulmonary stenosis, small pulmonary artery branches, and a thin walled ventricular diverticulum suggestive of cantrell's syndrome. the diverticulum was resected to prevent life threatening events ...
متن کاملOmenn syndrome: two case reports.
Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by...
متن کاملMurine models of Omenn syndrome.
In the 40 years since Harvard medical student Gilbert Omenn first described a rare, inherited disorder producing a paradoxical combination of immunodeficiency and immune dysregulation, the pathogenesis of Omenn syndrome (OS) has remained mysterious. In separate studies reported in this issue of the JCI, two mouse models bearing mutations in the V(D)J recombinase analogous to those causing human...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2020
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.19138