Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0206061 (interstitial pneumonia)
 6,105 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. 1093 36

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.
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PMID:Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis. 1120 40

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.
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PMID:Hyper-IgM syndrome complicated with interstitial pneumonia and peritonitis. 1265 10