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Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

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Autoinflammatory diseases (AIDs) are characterized by recurrent, self-limiting systemic inflammation. Disorders include hereditary recurrent fever (HRF) syndromes such as hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). To determine the incidence of HIDS and report clinical and genetic

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

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The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

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We studied 50 patients (28 male and 22 female) with the hyper-IgD and periodic fever syndrome. Most patients originated from Europe, namely The Netherlands (28 cases; 56%), France (10 cases, 20%), and Italy (3 cases, 6%), but 1 patient was from Japan. A hereditary component is suggested by 18

Cyclosporin treatment improves skin findings in omenn syndrome.

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Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3-month-old girl was admitted to our hospital with a history of recurrent

[Acquired immunodeficiency syndrome in a child of Swiss origin whose mother died from AIDS].

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Report of a now 2 8/12-year-old girl, who presented at the age of 8 months with chronic progressive pneumonia, mucocutaneous candidiasis, diarrhea, failure to thrive and a non-progressive paraplegia. The child's mother presented AIDS with pneumocystis carinii pneumonia and progressive general

[An infant of autoimmune hepatitis (type I) with cirrhosis].

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A 6 year-old boy with autoimmune hepatitis accompanied with cirrhosis was reported. He was admitted to our hospital because of abdominal distention, high fever, and diarrhea. Laboratory examination revealed abnormalities in hepatic function, cholestasis, anemia, thrombocytopenia, hypoalbuminemia,

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

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The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is

Early case of acquired immunodeficiency syndrome in a child from Zaire.

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An eight-year-old child from Zaire died in Sweden in 1982 after a clinical course compatible with the acquired immunodeficiency syndrome (AIDS). In 1975, at the age of 5 months, the infant had an acute viral infection with a rash; this illness was followed by a chronic cough. During the course of

Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations.

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Çakan M, Aktay-Ayaz N, Keskindemirci G, Karadağ ŞG. Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations. Turk J Pediatr 2017; 59: 467-470. The periodic fever syndromes are autoinflammatory diseases that present with recurrent fever, serositis

[A case of autoimmune lymphoproliferactive syndrome and literature review].

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OBJECTIVE To summarize the clinical characteristics, diagnosis and treatment of a case with autoimmune lymphoproliferative syndrome (ALPS) . METHODS The patient was diagnosed as autoimmune lymphoproliferactive syndrome (ALPS) after being admitted to the Department of Rheumatism and Immunology of

[An adult case of hemolytic uremic syndrome (HUS) after pathogenic Escherichia coli (E. coli) infection].

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In recent years, it has been revealed that verocytotoxin-producing E. coli (VTEC) infection is one of the leading causes of HUS and the molecular aspects of its pathophysiology have also been studied extensively. We report a case of a 56-year-old man who developed HUS after E. coli (O 26 strain)

[A boy highly suspected of hypersensitivity pneumonitis characterized by generalized mucosal lesions].

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The case is a boy who developed progressive dyspnea and had since been followed over a long period time as a case of unknown fever without respiratory symptoms. He showed mucosal symptoms such as intraoral aphtha, eosinophilic pyuria and diarrhea and was clinically diagnosed as hypersensitivity

Retroperitoneal fibromatosis and acquired immunodeficiency syndrome in macaques: clinical and immunologic studies.

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A simian acquired immunodeficiency syndrome (SAIDS) associated with retroperitoneal fibromatosis (RF) has been observed in several species of macaque at the Washington Regional Primate Research Center. Clinical signs were recurrent diarrhea, weight loss, mesenteric lymphadenopathy, and opportunistic

Mevalonate kinase deficiency and Dutch type periodic fever.

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Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or

Clinicopathologic features of a systemic coronavirus-associated disease resembling feline infectious peritonitis in the domestic ferret (Mustela putorius).

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From 2002 to 2007, 23 ferrets from Europe and the United States were diagnosed with systemic pyogranulomatous inflammation resembling feline infectious peritonitis (FIP). The average age at the time of diagnosis was 11 months. The disease was progressive in all cases, and average duration of

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