title: [Two children with severe recurrent infections and the X-linked hyper-IgM syndrome].
abstract: A boy suffered from severe recurrent intestinal infections from the age of 8 months onwards; investigation into an immune disorder ultimately resulted in the diagnosis of 'hyper-IgM syndrome'. He was treated successfully with bone marrow transplantation, using an HLA-matched donor. Another boy had severe recurrent respiratory tract infections from the age of 3 months onwards. At the age of 6.5 years, 'hyper-IgM syndrome' was diagnosed. No suitable donor was available. In addition, he developed sclerosing cholangitis and end-stage liver disease, making a combined bone marrow and liver transplantation too risky. He died at 10.5 years of age. X-linked hyper-IgM syndrome is a rare congenital immunodeficiency disorder, characterised by a defect in both humoral and cellular immune responses. Deficiency in the membrane glycoprotein CD40 ligand (expressed on activated T-cells) compromises T-cell interactions with antigen-presenting cells. In a child with severe recurrent infections, and with dysgammaglobulinaemia with a normal or increased IgM level, the diagnosis of 'X-linked hyper-IgM syndrome' should be considered.
authors.affiliation: Leids Universitair Medisch Centrum, Willem Alexander Kinder- en Jeugdcentrum, Leiden. migroeneweg@planet.nl
authors.forename: M
authors.initials: M
authors.lastname: Groeneweg
authors.forename: N G
authors.initials: NG
authors.lastname: Hartwig
authors.forename: A B
authors.initials: AB
authors.lastname: Poerink-Stockschläder
authors.forename: J J
authors.initials: JJ
authors.lastname: Schweizer
authors.forename: C M A
authors.initials: CM
authors.lastname: Bijleveld
authors.forename: R G M
authors.initials: RG
authors.lastname: Bredius
mesh_terms: D016026:Bone Marrow Transplantation; D023201:CD40 Ligand / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D007239:Infections / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D008297:Male; D012008:Recurrence; D013577:Syndrome
chemical_list: D007075:Immunoglobulin M; D023201:CD40 Ligand