1/101. Loss of endothelial surface expression of e-selectin in a patient with recurrent infections.Neutrophil accumulation at sites of inflammation is mediated by specific groups of cell adhesion molecules including the beta2 (CD18) integrins on leukocytes and the selectins (P- and e-selectin on the endothelium and l-selectin on the leukocyte). This is supported by studies of patients with leukocyte adhesion deficiency syndromes whose leukocytes are genetically deficient in the expression of beta2 integrins or selectin carbohydrate ligands (eg, sialyl-Lewis(x)). However, inherited deficiency or dysfunction of endothelial cell adhesion molecules involved in leukocyte recruitment has not been previously described. In this report we describe a child with recurrent infections and clinical evidence of impaired pus formation reminiscent of a leukocyte adhesion deficiency syndrome, but whose neutrophils were functionally normal and expressed normal levels of CD18, l-selectin, and sialyl-Lewis(x). In contrast, immunohistochemical staining of inflamed tissue from the patient showed the absence of e-selectin from the endothelium, although e-selectin mRNA was present. However, e-selectin protein was expressed as significantly elevated levels of circulating soluble e-selectin were detected, the molecular size of which was consistent with a proteolytically cleaved form of e-selectin. Gene sequencing failed to show evidence of a secreted mutant variant. These data represent, to our knowledge, the first description of a potentially inherited dysfunction of an endothelial cell adhesion molecule involved in leukocyte recruitment and provide additional human evidence of the importance of endothelial selectins in the inflammatory response.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/101. Severe factor v deficiency and neonatal intracranial haemorrhage: a case report.We report a case of severe factor V (FV) deficiency (<1%) associated with multiple episodes of intracranial bleeding which presented at birth. The clinical course was further complicated by the development of an inhibitor, episodes of sepsis and cardiac failure. The management using virally inactivated FFP and platelets is discussed.- - - - - - - - - - ranking = 1.6666666666667keywords = deficiency (Clic here for more details about this article) |
3/101. IgG2 immunodeficiency: association to pediatric patients with bacterial meningoencephalitis.An IgG subclass deficiency is often associated with bacterial infections. We studied four pediatric patients suffering from meningoencephalitis, two of them due to streptococcus pneumoniae and two due to haemophilus influenzae type b. Simultaneous diagnostic serum and cerebrospinal fluid samples were taken during income. The four subclasses of IgG and albumin were quantified in both biologic fluids by radial immunodiffusion. Very low levels of seric IgG2 with non detectable cerebrospinal fluid IgG2 were found in the patients. No intrathecal IgG subclass synthesis was found in two patients. One patient with S. pneumoniae had IgG3 intrathecal synthesis. Intrathecal IgG1, IgG3 and IgG4 synthesis was found in one patient suffering from H. influenzae according with reibergrams. Substitutive therapy with intravenous gammaglobulin was given to the patients as part of the treatment.- - - - - - - - - - ranking = 1.6666666666667keywords = deficiency (Clic here for more details about this article) |
4/101. A case of recurrent pneumonias.A description is given of the case of a young boy who presented with repeated episodes of pneumonias since childhood. In addition, he had episodes of intermittent diarrhoeas. His investigative work-up revealed a deficiency of serum immunoglobulins, that is, hypogammaglobulinaemia. The profile was suggestive of common variable immunodeficiency. Because of the relative rarity of this disease, it is often missed leading to significant morbidity. Treatment consists of immunoglobulin replacement therapy and management of recurrent infections with appropriate drugs.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
5/101. rubinstein-taybi syndrome with humoral and cellular defects: a case report.The first association of rubinstein-taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
6/101. Inherited complete factor I deficiency associated with systemic lupus erythematosus, higher susceptibility to infection and low levels of factor H.Here we describe two new cases of complete deficiency of factor I (fI) in two sisters from a consanguineous Brazilian family. The eldest sibling (20-year-old) developed systemic lupus erythematosus (SLE) early during childhood while the youngest had been committed on several occasions owing to repeated infections although she was asymptomatic for auto-immune diseases. We also detected lower concentrations of C3 and factor B in both sisters. Biological functions dependent on complement activation such as the production of opsonins and killing of phagocytozed micro-organisms, chemotactic factors and haemolytic activity were all significantly reduced in both probands. Consistent with the absence of fI and low levels of fH, a deregulated production of C3b was observed by bidimensional electrophoresis in sera of both the probands.- - - - - - - - - - ranking = 1.6666666666667keywords = deficiency (Clic here for more details about this article) |
7/101. Familial CD8 deficiency due to a mutation in the CD8 alpha gene.CD8 glycoproteins play an important role in both the maturation and function of MHC class I-restricted T lymphocytes. A 25-year-old man, from a consanguineous family, with recurrent bacterial infections and total absence of CD8( ) cells, was studied. Ab deficiencies and ZAP-70 and TAP defects were ruled out. A missense mutation (gly90-->ser) in both alleles of the immunoglobulin domain of the CD8 alpha gene was shown to correlate with the absence of CD8 expression found in the patient and two sisters. Conversely, high percentages of CD4(-)CD8(-)TCR alpha beta( ) T cells were found in the three siblings. A novel autosomal recessive immunologic defect characterized by absence of CD8( ) cells is described. These findings may help to further understanding of the role of CD8 molecules in human immune response.- - - - - - - - - - ranking = 1.3333333333333keywords = deficiency (Clic here for more details about this article) |
8/101. Unrelated bone marrow transplantation for leukocyte adhesion deficiency.The severe form of leukocyte adhesion deficiency type I (LAD-I) usually leads to death early in life. Allogeneic haematopoietic transplantation is the only cure. Unrelated transplantation has been reported only once. We describe three children with LAD-I transplanted with T cell non-depleted bone marrow from unrelated HLA-matched donors. All patients engrafted, one of them at second transplant. One patient developed grade I and one grade II acute GVHD. Two patients are alive, one of them with a decrease in CD11/CD18 expression. Early referral for HLA-matched unrelated BMT is a reasonable option for patients with LAD-I lacking an HLA-matched related donor.- - - - - - - - - - ranking = 1.6666666666667keywords = deficiency (Clic here for more details about this article) |
9/101. Thyroid abscess due to acinetobacter calcoaceticus: case report and review of the causes of and current management strategies for thyroid abscesses.Thyroid abscess was a common condition in the era before antibiotics. In the current medical environment, however, it is a clinical entity that is seldom encountered. We report the case of a unique cause of thyroid abscess, the environmental Gram-negative bacterium acinetobacter calcoaceticus. review of the published causes of thyroid abscess since 1980 demonstrated that although gram-positive bacteria (staphylococcus and Streptococcus species) remain the most common causes, there has been a marked decrease in the number of cases caused by mycobacteria, salmonella species, and anaerobes when compared with the early part of the 20th century. patients infected with the human immunodeficiency virus, however, still develop mycobacterial and fungal thyroid infections with some regularity. Reported modes of management of thyroid abscess vary, but drainage remains an integral component of therapy for resolution of the infection.- - - - - - - - - - ranking = 0.33333333333333keywords = deficiency (Clic here for more details about this article) |
10/101. Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy.OBJECTIVE: Although frequently asymptomatic, C2 complement component deficiency may lead to severe pyogenic infections or lupus-like illness. In the present report, we describe infectious manifestations in infancy and childhood in our C2-deficient patients. METHOD: A retrospective study of clinical manifestation in three patients was carried out. C2 deficiency was proved both by undetectable serum C2 level and typical homozygous 28 bp deletion of the C2 gene. RESULTS: All patients were hospitalized at least once by the age of 12 months, each had one episode of meningitis in infancy, one also had arthritis with septicaemia. Infections of the respiratory tract were the causes of other hospitalizations. Two patients also suffered from frequent mild respiratory tract infections; in both patients, decreased immunoglobulin IgA and immunoglobulin IgG2 or immunoglobulin IgG3 levels were recorded. CONCLUSION: Our observations point to an early manifestation of C2 deficiency within the first year of life, with meningitis as the most severe complication. The severity of immunodeficiency may be influenced by concomitant deficiencies of immunoglobulin isotypes.- - - - - - - - - - ranking = 2.6666666666667keywords = deficiency (Clic here for more details about this article) |
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