Current classification and status of primary immunodeficiency diseases in Taiwan.

The incidence of primary immunodeficiency diseases (PIDD) in Taiwan is estimated at 2.17 per 100,000 live births. This is much lower than in Sweden, with 8.4 per 100,000 live births. Patients with critical combined T-cell and B-cell immunodeficiency (CID) seem to be under-diagnosed because of delayed referrals to a tertiary care center which is able to organize a cooperative transplantation team encompassing, at least, a pediatric hematologist and a immunologist for severe combined immunodeficiency (SCID) classified as "pediatric emergency". Moreover, there are rare reported cases of adult-onset (over 18-years-old) common variable immunodeficiency (CVID). These cases are possibly treated as autoimmune diseases, but not PIDD. To date around the world, 206 kinds of PIDD have been found and 110 causal genetic effects were identified. Although epidemiological studies show wide geographical and racial variations in the prevalence and distribution of PIDD, we believe in Taiwan that those patients with Mendelian susceptibility to mycobacteria disease (MSMD), belonging to "congenital phagocyte defect", are often treated as isolated refractory mycobacterial infections or chronic granulomatous disease. Also, "diseases of innate immunity" and "autoimflammatory disorders" are not yet identified. To manage patients with hemophagocytic lymphohisticytosis syndromes, one of "disease of immune dysregulation, stem cell transplantation will be considered if there is poor response to chemotherapy. Patients with PIDD need better access to specialized clinical, laboratory and therapeutic resources.

Idiopathic pulmonary fibrosis in a child.

Idiopathic pulmonary fibrosis (IPF) is a rare disease of unknown etiology and is usually associated with a poor prognosis. Up to the present, less than 50 cases of IPF in children have been reported in the English literature, and no case has ever been reported from Taiwan. Herein we report on a 2-year-old boy with IPF presenting with a rapid onset of dyspnea followed by respiratory failure. The diagnosis of IPF was verified with an open lung biopsy. Despite intravenous methylprednisolone pulse therapy and empiric nitric oxide treatment, he expired on the 35th day after admission due to profound hypoxemia. A diagnosis of IPF should be included in the differential diagnosis for patients presenting with unexplained shortness of breath and pulmonary interstitial infiltrations.

Infrequent p53 gene mutations and lack of p53 protein expression in clear cell sarcoma of the kidney: immunohistochemical study and mutation analysis of p53 in renal tumors of unfavorable prognosis.

A high prevalence of p53 gene mutation and protein expression has been found in the anaplastic variant of Wilms' tumor (WT), known to be associated with poor outcome. However, there are very few studies of p53 alterations in the other two rare and highly malignant renal tumors in childhood, in other words, clear cell sarcoma of the kidney (CCSK) and malignant rhabdoid tumor of the kidney (MRTK). Overexpression of p53 protein has been detected in eight CCSKs in one study, and in two in another, yet no molecular correlation with p53 gene mutations has been carried out. Our study is the first molecular analysis concerning p53 in CCSK. We investigated eight cases of CCSK and one case of MRTK for p53 protein expression by immunohistochemical staining. All were analyzed for p53 mutations in the region of exons 4 to 8 by polymerase chain reaction-single-strand conformational polymorphism (PCR-SSCP) method and DNA sequencing analysis. By histological study, no CCSK showed anaplastic features. None expressed p53 protein, but two harbored p53 mutations. One was in exon 5, with a base pair insertion between codons 162 to 163 causing frameshift alteration in amino acid. Another was a silent CTC-->CTT transversion in codon 289 of exon 8. The case of MRTK did not show any alterations of p53 protein or gene. Our result indicates that p53 alterations are infrequent in CCSK and do not seem to be primary genetic events in the pathogenesis of CCSK.