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)

Three males in one family (two siblings and one maternal cousin) had an illness with cervical adenopathy, hepatosplenomegaly, and a fulminant febrile course. In the two survivors agammaglobulinemia developed. One of them became ill at the age of six months and had an Epstein-Barr-virus antibody titer of 1:10 during illness and convalescence. The white-cell count was 120,000 with 90 per cent lymphocytes, most being atypical and forming increased numbers of sheep erythrocyte rosettes. IgM was elevated, IgA normal and IgG decreased. Subsequently, all immunoglobulins were absent, and the Epstein-Barr-virus antibody titer became negative. Peripheral B-cell number remained normal, but abnormal lymph-node architecture associated with failure to respond to antigenic challenge indicated B-cell dysfunction. The pathogenesis of this entity may involve an abnormal T-cell response to transformation of B cells by Epstein-Barr virus, leading to B-cell dysfunction and agammaglobulinemia.
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PMID:Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children. 16 16

We present a case of a patient with common variable immune deficiency presenting as the Letterer-Siwe syndrome (disseminated Langerhans cell histiocytosis). To our knowledge, this is the only known patient with this association. The clinical presentation was chronic diarrhea, weight loss, recurrent infections, hepatosplenomegaly, and interstitial pneumonitis. Laboratory evaluation revealed evidence of immunodeficiency, with agammaglobulinemia and diminished number and function of T cells. The diagnosis of Langerhans cell histiocytosis was confirmed by electron microscopic examination of the lung biopsy specimen demonstrating Birbeck granules in the cells of the infiltrate. It is known that patients with the combined immunodeficiency syndrome may present as disseminated Langerhans cell histiocytosis, and the case presented demonstrates that patients with common variable immune deficiency may similarly present. It is advisable that patients newly diagnosed with Langerhans cell histiocytosis be evaluated to screen for immunodeficiency. Conversely, patients presenting with combined immunodeficiency or common variable immune deficiency may display features of disseminated Langerhans cell histiocytosis. These associations must be considered in newly diagnosed immunodeficient patients.
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PMID:A 13-month-old child with chronic diarrhea, weight loss, and tachypnea. 821 98

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