Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Brucellosis remains a major zoonotic disease worldwide. It has never been reported at King Chulalongkorn Memorial Hospital (KCMH). The authors describe the first case of brucellosis in KCMH, and also review all previous reports in Thailand. The presented case was a 52-year-old Thai man, living in Phetchabun Province, who was diagnosed with idiopathic pulmonary fibrosis two years prior to admission. He presented with prolonged fever, dry cough, weight loss of eight kg over three months, hepatosplenomegaly, and pancytopenia. Blood and bone marrow cultures grew Brucella melitensis at 72 hours of incubation. A slide agglutination (Rose Bengal) test was also positive for Brucella antibody. He had been exposed to contaminated placenta of his goats that had spontaneous abortion in the past few months before his illness. The patient was successfully treated with gentamicin, doxycycline, and rifampicin. Clinicians should have a high index of suspicion when evaluating patients presenting with prolonged fever and having an exposure risk of brucellosis.
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PMID:Brucellosis: the first case of King Chulalongkorn Memorial Hospital and review of the literature. 1704 47

We report a male with atypical severe combined immunodeficiency caused by heterozygous compound mutations c.256-257del and c.C1331T in RAG1 gene. The patient presents with recurrent bronchopneumonias with obstruction, chronic fibrosing alveolitis, complicated by respiratory failure, pulmonary hypertension and hepatosplenomegaly. He was diagnosed with agammaglobulinemia at the age of 9. His condition was complicated by granulomatous skin disease at the age of 12 despite regular IVIg substitution. Immunological presentation included profound hypogammaglobulinemia and absence of B cells. Under immunoglobulin substitution for 5 years patient has permanent lymphopenia, skewed phenotype of T cells and diminished number of recent thymic emigrants.
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PMID:Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male. 2308 44