Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome.
Parvovirus B19 (B19) can cause chronic anemia due to persistent infection in immunocompromised hosts who cannot produce neutralizing antibody necessary for clearing B19. Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a). Antibody responses to the T cell-dependent antigen, bacteriophage phiX174, were impaired, but neutralizing antibody titers were higher than in XHIM patients with classic phenotype. All 3 patients responded to intravenous immune globulin (IVIG) treatment. Certain mutations of the CD40L gene result in a mild XHIM phenotype that may become apparent following B19 infection in patients not on IVIG therapy and therefore not protected from B19 infection.
Seyama
K
K
Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195-6320, USA.
Kobayashi
R
R
Hasle
H
H
Apter
A J
AJ
Rutledge
J C
JC
Rosen
D
D
Ochs
H D
HD
D000293:Adolescent; D000740:Anemia / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D023201:CD40 Ligand; D002478:Cells, Cultured; D002648:Child; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D007075:Immunoglobulin M; D016130:Immunophenotyping; D007963:Leukocytes, Mononuclear / Q000276:immunology / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000235:genetics; D010322:Parvoviridae Infections / Q000150:complications / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology; D016732:Parvovirus B19, Human / Q000276:immunology* / Q000302:isolation & purification; D013577:Syndrome; D014960:X Chromosome
D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand