Initial manifestations and clinical course of systemic onset juvenile idiopathic arthritis: a ten-year retrospective study.

BACKGROUND/PURPOSE: The diagnosis of systemic onset juvenile idiopathic arthritis (SoJIA) on disease onset is challenging and made mainly by exclusion. This study aimed to investigate the initial clinical and laboratory features of children with SoJIA in Taiwan. METHODS: Patients diagnosed with SoJIA at the National Taiwan University Hospital between 1997 and 2007 were evaluated and data were collected by retrospective chart review. Inferential statistics were used to compare features of patients with steroid use for <6 months or >6 months. RESULTS: Twenty-eight (28) patients (13 boys and 15 girls) were included in this study. The mean age of onset was 8.7 years old. The most common presentations were fever (100%), arthritis (89.3%), and skin rash (67.9%). The patterns of arthritis in affected patients were 50% oligoarticular type and 39% polyarticular type. The most common joints involved were the knee (76% of patients with arthritis), ankle (56%), and elbow and proximal interphalangeal joints (28%). The most common pattern of fever during first week was intermittent (53%). Prolonged use of steroid was associated with leukocytosis (17.63±7.71 vs. 11.93±4.43×10(9) leukocytes/L, p<0.05) and higher aspartate aminotransferase (89.4 vs. 31.2 U/L, p<0.05) on initial presentation. CONCLUSION: In SoJIA, extra-articular features such as fever, rash, and lymphadenopathy are most prominent. Leukocytosis and polyarticular pattern on presentation may indicate a refractory clinical course.

X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.