1/66. An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome).Hyper-IgM syndrome (HIM) is a rare immunodeficiency disorder that has been associated with the development of symptoms and clinical features characteristic of rheumatoid arthritis (RA). We describe a patient with HIM and severe erosive arthritis with prominent nodules in the absence of detectable serum rheumatoid factor. Because HIM results from defects in either T cell CD154 (cd40 ligand) expression or abnormal CD40 signaling, the molecular basis of the patient's disease was analyzed. Activated CD4 T cells failed to express surface CD154 protein, and molecular analysis of CD154 complementary dna revealed a nucleotide transversion resulting in the nonconservative amino acid substitution G-D at amino acid 257. This case indicates that defective CD154-dependent CD40 signaling can be associated with susceptibility to a severe inflammatory arthritis that has both similarities to and differences from idiopathic RA.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
2/66. Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis.Hyperimmunoglobulin M (IgM) syndrome is a rare primary immunodeficiency disorder, and the non-X-linked form of this syndrome is even more infrequent. We report the clinical case of a 6-year-old girl. Her disease began at the age of 1 year when she experienced bronchial obstruction. When she was 3 years old she developed severe recurrent respiratory infections of unusual clinical course. serum IgM was elevated and the other serum immunoglobulins were absent. Cellular immune response was impaired, with severe depression of delayed hypersensitive cutaneous response and of proliferative response to mitogens. The cd40 ligand expression decreased. Chest CT scan showed areas of lung condensation, bronchial dilatation and signs suggesting interstitial pneumonitis. The latter was confirmed by a biopsy showing a high number of Langerhans' cells and an early-stage fibrosis. She was treated with antibiotics, inhaled bronchodilators and corticosteroids, intravenous immunoglobulin, chloroquine and prednisone. Despite the substitution therapy, her clinical course was slow, with respiratory infections and oxygen dependance. The follow-up thoracoscopic biopsy performed after 18 months of immunosuppressant therapy showed a progression of fibrosis and a decrease in the inflammatory infiltrate.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
3/66. Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature.Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease due to infection with polyomavirus JC (JCV). PML occurs almost exclusively in immunocompromised patients, and although it has increased markedly in relation to AIDS, remains exceptional in children. We present the case of an immunocompromised child with hyperimmunoglobulin E recurrent infection syndrome (HIES) and pathologically-proven PML. HIES is a rare congenital immunodeficiency that to our knowledge has never before been reported in association with neurological complications. Following a recurrence of bronchopneumonia, the child's motor and cognitive functions deteriorated progressively in parallel with alterations on cerebral MRI. The neurological onset coincided with lymphocyte subset changes. PCR for JCV dna did not detect the virus in CSF, and brain biopsy was required to secure the diagnosis. Antiviral treatment with cidofovir produced no benefit. autopsy revealed the typical neuropathological findings of PML which were associated with inflammatory eosinophilic infiltrate (a marker of HIES). In accordance with the few pediatric PML cases reported and here reviewed, the child died five months after neurological onset.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
4/66. X-linked hyper-IgM syndrome associated with cryptosporidium parvum and cryptococcus neoformans infections: the first case with molecular diagnosis in korea.X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding cd40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. The patient suffered from frequent respiratory infections, and chronic enteritis caused by cryptosporidium parvum. In addition, a lymph node biopsy and a culture from this sample revealed C. neoformans infection. Activated lymphocytes from the patient failed to express CD40L on their surface as assessed by flow cytometry and a missence mutation (W140R) was found at the XHIM hotspot in his CD40L cDNA to confirm the diagnosis. Genetic analysis of the mother and sister showed a heterozygote pattern, indicating carrier status. To our knowledge, this is the first report on the molecular diagnosis of an XHIM patient in korea.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
5/66. Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections.Host defense mechanisms were evaluated in a 4-1/2-year-old boy with recurrent pyogenic infections and a unique hyperkeratotic skin disorder. The patient's neutrophils were consistently defective in chemotactic responsiveness but had normal NBT reduction, glucose oxidation, and iodination. serum concentrations of IgE were markedly elevated and the secondary antibody response was abnormal. No T-cell dysfunction was detected. These findings suggest a relationship between this patient and patients with other syndromes associated with recurrent infections, cutaneous disease, defective chemotaxis, immunodeficiency, and hyperimmunoglobulinemia E.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
6/66. A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies.The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is characterized by hypogammaglobulinemia and recurrent bacterial infections. Here we report a novel case of ICF syndrome with hypogammaglobulinemia and an inverted CD4/CD8 ratio. Cytogenetically abnormal cells,that were identified in both CD4 and CD4- peripheral blood lymphocytes, retained their ability to proliferate in vitro following polyclonal stimulation. A primitive defect of B-cell differentiation was detected.- - - - - - - - - - ranking = 5keywords = immunodeficiency (Clic here for more details about this article) |
7/66. Thymus transplantation in patients with thymic hypoplasia and abnormal immunoglobulin synthesis.Fetal thymus transplantation was performed in three patients with thymic hypoplasia with abnormal immunoglobulin synthesis, one patient with ataxia telangiectasia, and one patient with immunodeficiency with eczema and thrombocytopenia. All patients received transfer factor before transplantation of a fetal thymus i.p. Reconstitution of cell-mediated immunity occurred in three of five patients. Two of the three patients with reconstitution of cell-mediated immunity also had evidence of improved antibody-mediated immunity. Reconstitution of cell-mediated immunity was characterized as occurring rapidly and being of varying duration, and was unassociated with HL-A chimerism. Successful reconstitution of immunity in these patients may have been related to several factors, including the use of fetal thymus less than 6 hr after abortion, i.p. transplantation, and a synergistic effect of transfer factor.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
8/66. Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome.We describe a 10-month-old boy diagnosed with X-linked hyper-IgM syndrome (XHIM) after suffering from life-threatening acute respiratory distress syndrome (ARDS) caused by pneumocystis carinii pneumonia (PCP), although his previous clinical history and first level laboratory tests investigating immunological function did not indicate immunodeficiency. When the patient's overall condition was good, elective bone marrow transplantation from an HLA-matched older brother was performed successfully. We describe how correct diagnosis and successful treatment were made possible thanks to the involvement of a network of specialists.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
9/66. A primary immunodeficiency disorder associated with absence of lymphoid germinal centers.In this article we describe three infants who suffered from a disorder characterized by splenomegaly, anemia, and severe infections beginning during the first months of life. Immunologic studies revealed agammaglobulinemia. However, normal numbers of lymphocytes and lymphocyte subsets were present in peripheral blood, and lymphocyte proliferation in responses to mitogenic stimulation in vitro was normal. Histologic and immunohistologic studies performed in one of the patients revealed lack of secondary follicles and follicular dendritic cells in lymphoid tissues and absence of plasma cells in the intestinal lamina propria. Similar findings have been observed in the hyper-IgM syndrome. However, these patients can be distinguished from currently recognized genetic variants of hyper-IgM syndrome on the basis of their clinical and histologic features, together with information obtained from dna sequence analysis. Thus, their condition is likely to represent a novel form of primary immune deficiency with features of hyper-IgM syndrome.- - - - - - - - - - ranking = 4keywords = immunodeficiency (Clic here for more details about this article) |
10/66. Antibody deficiency with hyper IgM--a case report.A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive. His IgG and IgA levels were low, but his IgM was elevated. He also had undetectable isohaemagglutinin titre and neutropenia, both parameters being poor prognostic indicators in this very rare primary immunodeficiency state--antibody deficiency with hyper IgM. Our patient subsequently succumbed to pseudomonas aeruginosa septicaemia and meningitis inspite of aggressive antibiotic and intravenous gammaglobulin therapy. To the best of our knowledge, this is the first such case to be documented in malaysia.- - - - - - - - - - ranking = 1keywords = immunodeficiency (Clic here for more details about this article) |
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