1/37. Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.We describe 5 children from 2 families with mutations in the cd40 ligand (CD40L) gene leading to absent expression of CD40L on activated CD4 cells. All subjects presented with interstitial pneumonia with low serum IgG and normal serum IgM. One child had normal and one child had elevated serum IgA. Four had confirmed pneumocystis carinii pneumonia. In spite of intravenous immunoglobulin treatment yielding therapeutic serum immunoglobulin levels, 3 children had enteroviral encephalitis. When assessed by flow cytometry, the 3 surviving affected male children had absent CD40L expression on activated CD4( ) T cells. The affected children from both families were shown to have the same single nucleotide insertion (codon 131) resulting in frameshift and early termination within exon 4 (extracellular domain). This observation demonstrates that persistent enteroviral infection is not only observed in X-linked agammaglobulinemia but may also occur in patients with X-linked hyper IgM syndrome.- - - - - - - - - - ranking = 1keywords = interstitial pneumonia, interstitial, pneumonia (Clic here for more details about this article) |
2/37. 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 = 0.15275007742604keywords = interstitial (Clic here for more details about this article) |
3/37. Tubulointerstitial nephritis and uveitis syndrome with autoantibody directed to renal tubular cells.The pathogenesis of tubulointerstitial nephritis and uveitis (TINU) syndrome remains unknown, but T cell-mediated immune response has been postulated to play a role. On the other hand, TINU syndrome is characterized by hypergammaglobulinemia and high serum immunoglobulin g (IgG) levels, suggesting an involvement of humoral immunity. We describe a case of TINU syndrome in a 13-year-old girl with multiple tubular dysfunctions including renal glucosuria, tubular proteinuria, phosphaturia, uricosuria, and concentrating and acidifying defect. IgG antibody from her serum was reactive against 125-kDa human kidney protein. Immunofluorescence study using mouse kidney revealed that the antibody was against cortical renal tubular cells. The antibody disappeared as the renal symptoms resolved. We suggest that IgG antibody may contribute to tubular dysfunction in some patients with TINU syndrome.- - - - - - - - - - ranking = 0.15275007742604keywords = interstitial (Clic here for more details about this article) |
4/37. 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 = 0.019168002924737keywords = pneumonia (Clic here for more details about this article) |
5/37. Large T-cell lymphoma in a 13-year-old girl with hyperimmunoglobulinemia E syndrome.Large T-cell lymphoma was diagnosed in a 13-year-old girl with hyperimmunoglobulinemia E syndrome (HIES). Her past medical history included severe dermatitis, recurrent pneumonia, urinary tract infections, mucocutaneous herpetic infections, fungal skin infections, and staphylococcal sepsis. The diagnosis of HIES, based on the clinical features and a serum IgE level of >20000 IU/ml, was established when the girl was 6 years old. This is the eighth case of lymphoma in a patient with HIES reported in the English-language medical literature. HIES has not usually been considered a predisposing factor for malignancy, but in view of the rarity of HIES and the young age of the patients, this association seems to be more than coincidental. A link between lymphoma and Epstein-Barr virus (EBV) infection in patients with HIES has been proposed. Serological tests for EBV in our patient were positive 6 years prior to the development of the lymphoma; however, examination for EBV dna in the lymph node biopsy failed to detect EBV in the tumor.- - - - - - - - - - ranking = 0.019168002924737keywords = pneumonia (Clic here for more details about this article) |
6/37. 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 = 0.019168002924737keywords = pneumonia (Clic here for more details about this article) |
7/37. Minimal change nephrotic syndrome, lymphadenopathy and hyperimmunoglobulinemia after immunization with a pneumococcal vaccine.A 67-year-old female was admitted to our hospital with eruption and cervical lymphadenopathy which occurred one week after pneumococcal vaccination. Polyclonal hyperimmunoglobulinemia (IgG 6,620 mg/dl) and mild plasma cell proliferation (6.4%) in a bone marrow specimen were found, but a lymph node aspiration biopsy showed no specific findings. Normochromic and normocytic anemia with a positive direct coombs test were also confirmed. Short-term intensive steroid therapy was given, but the systemic eruption and lymphadenopathy continued. About 4 months after vaccination, she suffered from edema in her face and legs and visual disturbance. When massive proteinuria (10.4 g/day) was found, she was admitted to our ward. A renal biopsy specimen showed a minor glomerular abnormality with mild interstitial plasmacytic infiltration. An abdominal CT scan showed hepatosplenomegaly and para-aortic lymphadenopathy. uveitis was also found by ophthalmoscopy. These abnormalities completely disappeared after intensive steroid therapy including pulse therapy. On the basis of her clinical course and laboratory findings, it was suggested that minimal change nephrotic syndrome might be induced after vaccination, possibly due to hypersensitivity syndrome.- - - - - - - - - - ranking = 0.030550015485207keywords = interstitial (Clic here for more details about this article) |
8/37. Hyper-IgM syndrome complicated with interstitial pneumonia and peritonitis.Hyper-IgM syndrome (HIM) is a rare disorder resulting from mutation in the cd40 ligand (CD40L) gene. This defect is associated with normal or elevated serum level of IgM and with low to undetectable levels of serum IgG, IgA, IgE. This case of HIM with CD40L deficiency was proven by flow cytometry but initially presented as interstitial pneumonia. pneumocystis carinii pneumonia was highly suggested. After intravenous immunoglobulin and trimethoprim-sulfamethoxazole treatment, his lung condition improved. However, peritonitis developed and surgical intervention was performed. ileum perforation and intestinal lymphoproliferation from a pathologic specimen were noted. Although peritonitis is extremely rare in patients with HIM, this report indicates that peritonitis which results from intestinal lymphoproliferation may be a manifestation of HIM.- - - - - - - - - - ranking = 4.9233279883011keywords = interstitial pneumonia, interstitial, pneumonia (Clic here for more details about this article) |
9/37. Accelerated usual interstitial pneumonitis, anti-dna antibodies and hypocomplementemia.A healthy 60-year-old patient presented with progressive dyspnoea. Clinical, radiographic and pathological features of interstitial lung disease were found and an open lung biopsy established the diagnosis of usual interstitial pneumonitis (UIP) (idiopathic pulmonary fibrosis). Despite treatment, the patient died 4 months later in respiratory failure. Although the patient had no extra-thoracic involvement at autopsy, his illness was associated with a very high titre of anti-double-stranded dna antibodies, hypocomplementemia, hypergammaglobulinaemia and lymphoid hyperplasia. These features and a literature review, suggest immune-mediated lung damage in a subset of patients with UIP.- - - - - - - - - - ranking = 0.18330009291124keywords = interstitial (Clic here for more details about this article) |
10/37. Acquired chronic pure red cell aplasia successfully treated with intravenous pulse methylprednisolone therapy.A 65-year-old male patient developed acquired chronic pure red cell aplasia (PRCA) associated with hypergammaglobulinemia and positive Coombs' test during the treatment of eosinophilic pneumonia with prednisolone (PSL). His PRCA was treated with oral PSL at a dose of 60 mg/day for 3 weeks, but anemia further progressed. Immediately after high-dose intravenous pulse methylprednisolone therapy (1 g/day for 3 days) however, reticulocyte crisis occurred and his anemia rapidly improved. He has been in complete remission under a maintenance dose of PSL for more than 2 years. This patient indicates that high-dose intravenous methylprednisolone therapy is one of the useful treatments, not only for constitutional PRCA, but also for acquired chronic PRCA.- - - - - - - - - - ranking = 0.019168002924737keywords = pneumonia (Clic here for more details about this article) |
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