PW02-012 - First clinical description of an infant with DITRA
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چکیده
منابع مشابه
PW02-012 - First clinical description of an infant with DITRA
Introduction Interleukin-36-receptor antagonist deficiency (DITRA) is a recently described auto-inflammatory disease, characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia and systemic inflammation. This condition is caused by homozygous missense mutation in the IL36RN gene, encoding the interleukin-36-receptor antagonist (IL-36Ra), an anti-inflammatory cytoki...
متن کاملFirst clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.
YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. M...
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The human cytomegalovirus (CMV) is widely distributed among the human population as one of the most common causes of congenital infection with an incidence of about 0.15-2.0% in developed countries.In this case report we present a female neonate (with a maternal history of flu-like syndrome in 30 weeks of pregnancy) delivered via caesarian section with good reflexes and appropriate APGAR score,...
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We report here the case of the youngest patient with adenomyomatosis of the gallbladder in a female infant diagnosed at 4 months of age. This diagnosis was made based on characteristic ultrasonography findings in a patient that was undergoing routine surveillance for a suspected clinical diagnosis of Beckwith-Wiedemann syndrome. The patient remains asymptomatic and currently no surgical interve...
متن کاملPW02-004 - Autoinflammatory syndromes: a clinical review
Introduction Autoinflammatory syndromes are a group of rare conditions that cause intermittent episodes of fever and organ system inflammation. The majority of these conditions have been linked to single gene mutations that are involved in the acute inflammatory response. Many of these monogenic disorders, such as Familial Mediterranean Fever (FMF) and Hyper IgD syndrome (HIDS), are more preval...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a152