We retrospectively analyzed the outcomes of hematopoietic stem cell transplantation in 7 patients with primary immunodeficiency diseases treated at the National University Hospital, Singapore, over the period from December 1996 to January 2010. The primary immunodeficiency diseases managed were X-linked hyperimmunoglobulin M syndrome (n = 3), severe combined immunodeficiency (n = 1), leukocyte ...

Hyperimmunoglobulin E syndrome (HIES) or Job's syndrome is a rare immunodeficiency disease with less than 200 cases reported worldwide, among which few cases are reported with lesions due to herpes simplex virus (HSV) or human papillomavirus (HPV). This case study presents a rare case of HIES with coinfection of HSV and HPV. A 12-year-old boy, previously diagnosed with HIES, presented with a la...

Introduction: Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of childhood chronic arthritic conditions. The pathogenesis of JIA remains incompletely understood. This disease can lead to a significant morbidity including joint deformity, growth impairment and a persistence of active arthritis into adulthood. The past two decades have witnessed significant advances in treatm...

Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following ...

Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting three to seven days and recurring every three to six weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, di...