Filter by keywords:



Filtering documents. Please wait...

1/7. A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.

    Gamma interferon (IFN-gamma) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-gamma receptor ligand-binding chain (IFN-gammaR1) deficiency present gross mutations that truncate the protein and prevent its expression, giving rise to severe mycobacterial infections and, frequently, a fatal outcome. In this report a new mutation that affects the IFN-gammaR1 ligand-binding domain in a Spanish patient with mycobacterial disseminated infection and multifocal osteomyelitis is characterized. The mutation generates an amino acid change that does not abrogate protein expression on the cellular surface but that severely impairs responses after the binding of IFN-gamma (CD64 and HLA class II induction and tumor necrosis factor alpha and interleukin-12 production). A patient's younger brother, who was also probably homozygous for the mutation, died from meningitis due to mycobacterium bovis. These findings suggest that a point mutation may be fatal when it affects functionally important domains of the receptor and that the severity is not directly related to a lack of IFN-gamma receptor expression. Future research on these nontruncating mutations will make it possible to develop new therapeutical alternatives in this group of patients.
- - - - - - - - - -
ranking = 1
keywords = bovis
(Clic here for more details about this article)

2/7. Utility of PCR assays for rapid diagnosis of BCG infection in children.

    We report mycobacterium bovis BCG infection in two children vaccinated with BCG (tokyo strain) on the first day of life. Their diagnoses were made by biopsy of skin lesions and pus from an anterior chest wall abscess, respectively, yielding a positive culture of mycobacteria fully susceptible to rifampicin, isoniazid and ethambutol, but resistant to pyrazinamide. M. bovis BCG was identified by a negative niacin test, absence of nitrate reductase and resistance to pyrazinamide and cycloserine. The diagnoses were further confirmed by a combination of an allele-specific polymerase chain reaction ated strain of mycobacterium bovis, is the only available vaccine for the prevention of tuberculosis. Although complications are rare after BCG vaccination and the outcome is usually favourable, serious BCG infections can occur. We report two cases of M. bovis BCG infection in children, a 4-year-old immunocompetent girl and an 8-month-old immunodeficient boy. To our knowledge, this is the first report of BCG complications in children in which two recently developed polymerase chain reaction (PCR) based methods were used for rapid identification of M. bovis BCG infection. (PCR) and a multiplex PCR method. Based on the drug susceptibility results, treatment with rifampicin, isoniazid and ethambutol was instituted. One patient (Case 1) improved clinically and is well after treatment. However, the other patient with severe combined immunodeficiency died of disseminated BCG infection in spite of intensive anti-tuberculosis therapy. Although BCG is considered to be a safe vaccine, it should be kept in mind that complications related to BCG do occur.
- - - - - - - - - -
ranking = 5
keywords = bovis
(Clic here for more details about this article)

3/7. Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature.

    Two infants, one with a T-cell-signaling defect resulting in a primary immunodeficiency syndrome and the other with severe combined immunodeficiency (SCID), are described. Both infants developed cutaneous infections secondary to their bacillus Calmette-Guerin (BCG) vaccinations. Both patients were from countries where BCG is routinely administered in infancy. The infant with the T-cell-signaling defect developed a disseminated infection involving the skin, while the infant with SCID developed a localized cutaneous infection at the site of his BCG immunization. These two cases resemble other reported cases of cutaneous BCG infection following routine vaccination in immunocompromised patients. mycobacterium bovis infection should be considered in patients with cutaneous eruptions who have received BCG vaccination, especially those who are immunocompromised.
- - - - - - - - - -
ranking = 3.1096865167862
keywords = bacillus, bovis
(Clic here for more details about this article)

4/7. Disseminated BCG infection in a patient with severe combined immunodeficiency.

    Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG) vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonography and CT scanning revealed multiple nodules in the spleen, and portocaval lymphadenopathy.
- - - - - - - - - -
ranking = 2.1096865167862
keywords = bacillus
(Clic here for more details about this article)

5/7. Disseminated Bacille Calmette-Guerin disease as the initial presentation of X-linked severe combined immunodeficiency--a case report.

    Bacille Calmette-Guerin (BCG) vaccination is used to prevent severe M. tuberculosis infection. It has been used in many countries for a long time. However, complications do occur, including localized abscesses, regional lymphadenitis and disseminated disease. The latter is often associated with underlying immunodeficiency. We report an 8-month-old male infant presenting with cough and fever who had had a generalized pigmented skin rash for one month. skin biopsy revealed mycobacterial infection, but his response to treatment was poor and he had a persistent mild fever. Immunological studies revealed an IgG of 49 mg/dl, IgA 4 mg/dl, IgM 28 mg/dl, IgE < 1 mg/dl, CD3 1.1%, CD4 0.6%, CD8 0.6%, CD19 93.9%, CD57 1.1%, activated T cells 0.9%, and CH50 < 6.3%. These findings are compatible with the diagnosis of T(-)B( )NK- severe combined immunodeficiency. sequence analysis was performed and showed the presence of missense mutation in IL2Rgamma gene. An X-linked recessive inheritance pattern was proved by sequence analysis of his mother and grandmother. In order to identify the strain of the microorganism, we reviewed pathology of the skin biopsy which consisted of diffuse histiocytic infiltrate with poorly formed granulomas and no necrosis and used polymerase chain reaction (PCR) with the stain-positive clinical specimen and verify the organism found in the child's biopsy as M. bovis BCG strain. The diagnosis of disseminated BCG disease must be considered in any infant with cutaneous mycobacterial lesions, especially with atypical histologic findings. Such a patient's immunologic status should be evaluated and further family study is suggested. A high index of suspicion is needed to make a timely diagnosis, as early intervention with intensive treatment and bone marrow transplantation may be life-saving.
- - - - - - - - - -
ranking = 1
keywords = bovis
(Clic here for more details about this article)

6/7. Successful unrelated mismatched cord blood transplantation in an infant with severe combined immunodeficiency and mycobacterium bovis bacillus Calmette-Guerin disease.

    The case reported here of an infant who presented with pneumocystis carinii pneumonia, CD4 lymphopenia, and hypogammaglobulinemia attributable to severe combined immunodeficiency (SCID). This report discussed treatment of mycobacterium bovis bacillus Calmette-Guerin disease with unrelated cord blood transplantation in addition to antituberculous therapy, by adoptively transferring donor immunity with induction of mixed chimerism. Because of the unique nature of umbilical cord blood hematopoietic cells, engraftment without conditioning may be possible in SCID patients without fully matched donors.
- - - - - - - - - -
ranking = 15.548432583931
keywords = bacillus, bovis
(Clic here for more details about this article)

7/7. Pulmonary miliary tuberculosis and T-cell abnormalities in a severe combined immunodeficient patient reconstituted with haploidentical bone marrow transplantation.

    We report the development of miliary tuberculosis in a 7-year-old boy with severe combined immunodeficiency (SCID), whose immune system had been only partially reconstituted by haploidentical bone marrow transplantation. Although alpha beta and gamma delta T cells were of donor origin, alpha beta T cells in this patient showed defective interleukin-2 (IL-2) production, impaired IL-2 responsiveness and decreased cytolytic activity. However, gamma delta T cells could exhibit enough cytolytic activity after incubation with IL-2. Despite the presence of disseminated infection, c-reactive protein (CRP) remained negative. IL-2 therapy aggravated the disseminated tuberculosis though gamma delta T cells were supposed to be activated, and concurrently CRP became positive. These findings suggest that gamma delta T cells have no more than limited immunological roles in mycobacterium tuberculosis infection.
- - - - - - - - - -
ranking = 0.46638186600724
keywords = mycobacterium
(Clic here for more details about this article)


Leave a message about 'Severe Combined Immunodeficiency'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.