Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of Wiskott-Aldrich syndrome in a 3 1/2-year-old boy. The patient developed reticulum cell sarcoma primarily in the brain; a biopsy specimen was obtained, and treatment with irradiation and chemotherapy was begun. Computerized tomography performed after three months of therapy showed remarkable regression of tumor. When the patient died five months postoperatively, no viable tumor was present; death was the result of pneumonia and sepsis. Only two previous cases of lymphoreticular neoplasm confined to the brain and associated with this syndrome have been described. We discuss the relationship between immunodeficiency and the occurrence of neoplasia in this syndrome.
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PMID:Primary reticulum cell sarcoma of the brain in Wiskott-Aldrich syndrome. Report of a case. 33 30

A case of Wiskott-Aldrich syndrome is reported. At 2 months of age the infant was hospitalized because of petechiae, and a low platelet count was noted (range 30.000/90.000/mmc). During his stay in the Hospital he developed pneumonia, which lasted several weeks in spite of therapy. Subsequently he presented eczema and a defect of cell-mediated immunity, and the Wiskott-Aldrich syndrome was diagnosed. A short review of clinical and functional findings in this syndrome is reported.
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PMID:[Wiskott-Aldrich syndrome: description of a clinical case]. 209 94

Splenectomy for massive splenomegaly and hypersplenism carries a significant morbidity and mortality. We have used partial splenic embolization (PSE) as an effective alternative to splenectomy. Ten PSE procedures were performed on nine patients without mortality and with minimal morbidity. The age of the patients ranged from 8 months to 32 years (mean 14 years). The causes of splenomegaly and hypersplenism included cystic fibrosis with cirrhosis (2), tyrosinemia and cirrhosis (1); thalassemia (1), hemophilia with Human Immune Deficiency Virus infection (2), chronic hepatitis with portal hypertension (1), malignant histiocytosis (1), and Wiskott-Aldrich Syndrome (1). All procedures were performed under local anesthesia with sedation. A percutaneous femoral artery approach to the splenic artery was used to deliver Ivalon sponge particles (280-800 microns) into the spleen. Splenic infarction was assessed by postembolization angiograms. All of the patients except one demonstrated improvement of hematologic parameters. In one patient, however, cytopenia improved only after a second embolization. In the total series, there was an early mean rise of 8,600/mm3 in the leukocyte count (range 2,900-14,900) and 212,000/mm3 in the platelet count (range 30,000-718,000). Follow-up ranged from 4 months to 7 years. Improvement of the blood picture has been persistent in seven of the eight patients who showed initial improvement. Transient procedural complications included fever (5), pleural effusion (2), pneumonia (1), and splenic abscess (1). One patient had paralytic ileus lasting for 10 days and one patient developed a streptococcal peritonitis 3 weeks after embolization. No patient developed pancreatitis or vascular compromise of other abdominal viscera.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Partial splenic embolization. An effective alternative to splenectomy for hypersplenism. 226 5

In previous work in this laboratory, Mycoplasma suipneumoniae was recovered in liquid medium from 13% of individual cases and 18% of outbreaks of enzootic pneumonia in pigs. In the work now described, however, these recovery rates, when judged by the same criteria, were 45 and 75%, respectively. As there was evidence to suggest that this second series of pneumonic cases was less suitable for cultural examination than the first series, some of the other factors that might have improved the recovery rate were investigated.Some improvement was probably achieved by inoculating the liquid medium with three or four different dilutions of pneumonic tissue, each dilution always being in duplicate, and by incubating the inoculated tubes for over 3 weeks before discarding them.A second advantage could have derived from the fact that all batches of liquid medium were tested for their ability to support the growth of M. suipneumoniae before being used to culture field material.THE EFFECT OF VARYING ONE CONSTITUENT AT A TIME WAS OBSERVED IN CONTROLLED EXPERIMENTS: different batches of pig sera had a marked, variable effect on the growth of both M. suipneumoniae and Mycoplasma hyorhinis; medium made with purchased Hartley's broth was found to be superior to medium incorporating broth made in this laboratory, more so for the growth of M. suipneumoniae than M. hyorhinis; the incorporation of yeast extract made in this laboratory gave a marginal advantage for the growth of M. hyorhinis; and both mycoplasmas grew equally well in medium containing or lacking thallium acetate.Some batches of medium were, by chance, markedly selective for the growth of M. suipneumoniae compared with M. hyorhinis. As the full reasons for this were not known, attempts were made to develop selective media in a more direct way. One such medium contained 5% pig serum and 15% horse serum, and a second was of similar composition, except that the pig serum used inhibited preferentially the growth of M. hyorhinis compared with M. suipneumoniae. Both media markedly favoured the growth of M. suipneumoniae when tested separately with cultures of M. suipneumoniae and M. hyorhinis. The second medium yielded M. suipneumoniae when inoculated with a 10(-1) dilution of a culture of M. suipneumoniae and a 10(-2) dilution of a culture of M. hyorhinis, whereas a standard batch of liquid medium, similarly inoculated with M. suipneumoniae did not yield this mycoplasma until the M. hyorhinis culture included in the inoculum was diluted to 10(-6).Both selective media, when tested on a small number of field cases, gave improved isolations of M. suipneumoniae compared with the routine batches of liquid medium used initially.Considerable difficulty was experienced in producing a sufficiently high level of antibodies to M. hyorhinis in pig sera and to M. suipneumoniae in rabbit sera. This exacerbated the problem of isolating and identifying M. suipneumoniae from field cases of enzootic pneumonia by this cultural method.
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PMID:Further observations on the problem of isolating Mycoplasma suipneumoniae from field cases of enzootic pneumonia in pigs. 527 Feb 6

Antibodies directed to capsular polysaccharides form an essential component in the defence against infections with encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenzae type b. Immune responses to polysaccharide antigens can occur in the absence of a functional thymus and the antigens are therefore designated as thymus independent. However, regulatory T cells may influence the magnitude of the antibody response to capsular polysaccharide antigens. So-called thymus independent type 2 antigens share several features of their immune response such as late development of antibody synthesis in ontogeny, no memory formation and a restricted isotype (IgM, IgG2) and idiotype usage. In infants and young children up to the age of 2 years the antibody response to capsular polysaccharides is inadequate resulting in an increased incidence of diseases such as pneumonia, meningitis, otitis and other forms of bacteremic disease. Anti-capsular polysaccharide antibody deficiency does occur in a number of well defined immunodeficiency syndromes including hypo- or agammaglobulinaemia, selective IgA and/or IgG subclass deficiency, Wiskott-Aldrich syndrome, DiGeorge anomaly and also in acquired immune deficiencies such as AIDS, and some forms of lymphoid malignancies. In elderly and in conditions such as splenectomy an increased incidence of infections with encapsulated bacteria does occur, sometimes but not always on basis of a defect in antibody formation. Clinicians are often confronted with young patients older than 2 years of age suffering from recurrent severe bacterial infections of the respiratory tract. In these patients no overt immunodeficiency is demonstrable but recent results indicated that a small percentage may show a selective defect in the antibody response since upon vaccination with polysaccharide vaccines no increase in antibody titer does occur. Though antibodies to polysaccharide antigens in young children are mainly of the IgM and IgG1 (IgG3) isotype, in older children and adults the polysaccharide antibodies are predominantly localized in the IgG2 subclass. The bridge between IgG2 type antibodies and phagocytosis of encapsulated bacteria is constituted by Fc gamma receptors for IgG2 on effector cells. The recent finding that allotypes of Fc gamma RIIa do exist that either bind or do not bind IgG2 type antibodies strongly suggests that the defence of a given individual to encapsulated bacteria apart from an intact antibody formation and the complement system also is determined by the allotype of the appropriate Fc gamma receptor.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Anti-capsular polysaccharide antibody deficiency states. 816 45

An 8.5-month-old boy with Wiskott-Aldrich syndrome received a sibling matched bone marrow transplant from his healthy non-identical twin brother. The donor had primary human herpes virus 6 (HHV-6) infection around the time of bone marrow donation. The recipient had hepatitis in the first week and then developed fever and rash on day 18. Skin biopsy was shown to have HHV-6 antigen and his peripheral blood leukocytes were HHV-6 DNA positive. He engrafted on day 18 but the ANC dropped from 5.5 x 10(9)/l (day 23) to 0.48 x 10(9)/l (day 34) with persistent HHV-6 DNAemia. Bone marrow on day 35 was positive for HHV-6 DNA. He was treated with G-CSF and ganciclovir with good response. He later had pneumonitis which was treated empirically with foscarnet, ceftazidime and clarithromycin.
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PMID:Primary human herpes virus 6 infection transmitted from donor to recipient through bone marrow infusion. 963 82

Two hundred and eight children with recurrent pneumonia were studied over a 5-year period. Among these patients we found 10 cases with primary immunodeficiency disease: 6 cases of IgA deficiency, 1 case of X-linked agammaglobulinemia, 1 case of common variable immunodeficiency, 1 case of hyper IgM syndrome, and 1 case of Wiskott-Aldrich syndrome. This study describes the clinical features of these cases and assesses the usefulness of our immunodeficiency screening protocol. In this group 6 were males; the mean age at first episode of pneumonia was 3 years (range 3 months to 18 years), and the age of diagnosis ranged between 10 months and 19 years. The average number of episodes of pneumonia in each patient was 5 (range 2 to 12), and the number of hospitalizations ranged up to 13. The etiologic agents isolated from this recurrent pneumonia were S. pneumoniae, Moraxella, adenovirus, respiratory syncytial virus, and influenza B virus. Intravenous immunoglobulin was used in four cases. Two patients had chronic pulmonary damage with bronchiectasis and interstitial pneumonia. Only one patient died (Wiskott-Aldrich syndrome) during the follow-up from an intracranial hemorrhage. We found that the screening protocol applied to patients with recurrent pneumonia is a useful tool for ruling out the primary immunodeficiency disorders.
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PMID:Recurrent pneumonia as warning manifestation for suspecting primary immunodeficiencies in children. 1190 19

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by microthrombocytopenia, eczema, immunodeficiency, and susceptibility to lymphoid malignancy. Loss-of-function mutations in WAS gene have been identified to cause disorders with platelet defects including WAS and X-linked thrombocytopenia. Mutations anticipated to yield truncated or no protein have been associated with the more severe presentations of WAS. Activating mutations in WAS gene result in an entirely different phenotype, an X-linked severe congenital neutropenia. We describe a Thai family with classic WAS. The proband, a one-year-old boy presented with recurrent mucous bloody diarrhea, recurrent otitis media, chronic eczema, thrombocytopenia, and small platelet sizes. The patient's older brother who also had persistent thrombocytopenia died at the age of seven months from severe pneumonia. Immunoblot analysis demonstrated that the proband's cells lacked WAS protein expression. Mutation analysis of the proband and his mother for the entire coding region of WAS identified a novel type of mutation, a termination codon mutation, X503R. The change is expected to result in an elongated mRNA that would code for a WASP of 581 amino acid residues instead of the normal 502 residues. Because of the absence of WASP expression, we speculate that the termination codon mutation causes reduced mRNA stability. Our findings supported that WAS mutations resulted in no protein are associated with a severe phenotype of WAS.
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PMID:A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome. 1461 70

We describe successful unrelated cord blood transplantation in a 14-month-old boy with Wiskott-Aldrich syndrome. He had been suffering from recurrent cytomegalovirus (CMV) pneumonia. Ganciclovir was given pretransplantation and posttransplantation, and CMV antigenemia was monitored as a marker of reactivation. The conditioning regimen was cyclophosphamide, busulfan, and antithymocyte globulin. The patient received an HLA 1-locus-mismatched cord blood unit, and the total number of infused nucleated cells was 9.0 x 10(7)/kg. Neutrophil engraftment was achieved on day +20, and a platelet count greater than 50 x 10(9)/L was achieved on day +51. A normal lymphoproliferative response to phytohemagglutinin mitogen was detectable 7 months posttransplantation. Long-term use of ganciclovir prevented CMV reactivation and did not compromise engraftment.
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PMID:Successful unrelated cord blood transplantation in an infant with Wiskott-Aldrich syndrome following recurrent cytomegalovirus disease. 1470 41

Although most cytomegalovirus (CMV) infections are asymptomatic or cause only mild disease, the virus can cause serious disease and even mortality in immunocompromised children. In patients with Wiskott-Aldrich syndrome (WAS), recurrent CMV infection is infrequently seen. A 3-month-old male infant was referred to Chang Gung Children's Hospital due to persistent thrombocytopenia and intermittent tachypnea. WAS complicated with CMV pneumonitis was diagnosed subsequently. He was discharged at the age of 7 months after a complete course of antiviral treatment. Unfortunately, refractory hemorrhagic gastritis developed later and recurred in spite of antiviral treatment and intravenous immunoglobulin. The patient died of recurrent gastrointestinal bleeding at the age of 23 months. This observation indicates that a case of WAS complicated with CMV gastrointestinal disease may need more vigorous treatment.
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PMID:Fatal cytomegalovirus gastrointestinal disease in an infant with Wiskott-Aldrich syndrome. 1821 79


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