Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sclerosing cholangitis, an inflammatory disease of the biliary tree that occurs infrequently in childhood, has been recognized in combination with papillary stenosis in adults with the acquired immunodeficiency syndrome. A 10-yr-old child with a familial immunodeficiency syndrome characterized by defective T-cell function and deficiencies of immunoglobulins A and G developed papillary stenosis and sclerosing cholangitis associated with cryptosporidium enteritis. The patient presented with fever, jaundice, right upper quadrant pain, and elevated serum concentrations of transaminases and alkaline phosphatase. The pain and jaundice resolved after endoscopic sphincterotomy, but the biochemical abnormalities persisted. This case demonstrates that the combination of papillary stenosis and sclerosing cholangitis can occur in children as well as adults and may be associated with immunodeficiency syndromes other than the acquired immunodeficiency syndrome. Endoscopic sphincterotomy can provide symptomatic treatment for papillary stenosis in children with this condition, although the effect of sphincterotomy on the natural history of the sclerosing cholangitis is uncertain.
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PMID:Papillary stenosis and sclerosing cholangitis in an immunodeficient child. 271 83

Sclerosing cholangitis may be a cause of refractory pain in patients infected with the human immunodeficiency virus. We performed celiac plexus block in three such patients with sever pain from sclerosing cholangitis and a poor response to conventional analgesia. The pain had been centered in the epigastrium and/or upper-right quadrant of the abdomen for 2, 10, and 15 weeks, respectively. Computed tomography-guided celiac plexus block with absolute alcohol and bupivacaine was performed. All three patients reported complete disappearance of the pain immediately after the procedure in two cases and 3 days later in the remaining patient. All patients were discharged free of pain and without analgesics and were followed up for 2, 8, and 11 months, respectively, without recurrence of pain. Celiac plexus block deserves further trial for the treatment of severe pain associated with sclerosing cholangitis in patients with acquired immunodeficiency syndrome. The quality of life of our three patients was considerably improved with this relatively simple procedure.
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PMID:Celiac plexus block as treatment for refractory pain related to sclerosing cholangitis in AIDS patients. 883

Sclerosing cholangitis in childhood is a heterogeneous condition, which has different aetiologies. Sclerosing cholangitis may be inherited and diagnosed in the neonatal period (neonatal sclerosing cholangitis); it may present later with features of autoimmunity (autoimmune sclerosing cholangitis); or it may be associated with a variety of disorders, including Langerhans cell histiocytosis, immunodeficiency, psoriasis, cystic fibrosis, reticulum cell sarcoma and sickle cell anaemia. In contrast to the experience in adult patients, sclerosing cholangitis occurring as an individual disease (primary sclerosing cholangitis) is rare. The initiating events and possible pathogenic mechanisms differ in the various forms of sclerosing cholangitis and are still obscure. Treatment and prognosis depend on the type of sclerosing cholangitis present.
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PMID:Sclerosing cholangitis in the paediatric patient. 1149 76

The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function. Because of its rarity, it has been difficult for any single investigator or institution to develop a comprehensive clinical picture of this disorder. Accordingly, a national registry was developed in the United States to provide demographic, genetic, immunologic, and clinical information on a relatively large number of patients with the XHIGM syndrome.A total of 79 patients from 60 unrelated families were registered between January 1997 and July 2002. The estimated minimal incidence was approximately 1/1,030,000 live births. All of the patients had significant IgG deficiency and most had IgA deficiency, but only one-half had elevated IgM levels. Most patients presented initially with a history of an increased susceptibility to infection including Pneumocystis carinii pneumonia. The average age of diagnosis was significantly earlier in patients born into a family with a previously affected individual. However, only one-third of the patients born into a family with a previously affected individual were diagnosed exclusively because of the presence of the positive family history before any clinical symptoms developed. Over half the patients developed symptoms of immunodeficiency and were diagnosed by 1 year of age, and over 90% by 4 years of age. The most prominent clinical infections were pneumonia (81% of patients), upper respiratory infections (49%) including sinusitis (43%) and recurrent otitis (43%), recurrent/protracted diarrhea (34%), central nervous system infections (14%), sepsis (13%), cellulitis (13%), hepatitis (9%), and osteomyelitis (1%). In addition to infections caused by encapsulated bacteria, opportunistic infections were relatively common and were caused by P. carinii, members of the herpes virus family (including cytomegalovirus), Cryptosporidium, Cryptococcus, Candida, Histoplasma, and Bartonella. Sclerosing cholangitis occurred in 5 patients and in 4 of these was associated with Cryptosporidium infection. Eight patients had died at the time of their entry into the Registry; 2 of pneumonia (1 P. carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome.
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PMID:The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. 1466 87

Sclerosing cholangitis (SC) is a chronic cholestatic disease characterized by inflammation and obliterative fibrosis of the bile ducts, leading to biliary cirrhosis and ultimately to liver failure. Four main clinical forms can be distinguished in children: i) neonatal SC, most probably a genetic disease transmitted by autosomal recessive inheritance; ii) SC associated with strong features of autoimmunity (referred as autoimmune sclerosing cholangitis) with quite good response to immuno-suppression iii) primary SC of unknown etiology (i.e. without features of autoimmunity) and iv) SC secondary to various diseases, including Langerhans cell histiocytosis and immunodeficiencies. Ursodesoxycholic acid is considered the treatment of choice for all forms of SC but without proof of its effectiveness in preventing progression to secondary biliary cirrhosis. In patients with immunodeficiencies, early bone marrow transplantation is the only way to prevent secondary SC. Liver transplantation remains the only validated treatment in children with biliary cirrhosis. Recurrence of SC after liver transplantation has not been clearly demonstrated in children; however, recurrence of Langerhans cell histiocytosis with bile duct injury has been reported. For patients with severe immunodeficiency, a two-step liver then bone marrow transplantation protocol may be proposed.
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PMID:Specificities of sclerosing cholangitis in childhood. 2263 98