title: Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue.
abstract: A combined chromosomal abberation trisomy of the short arm of chromosome 10 associated with translocation of 10q to chromosome 4p was found in a 14-month-old boy, who died after repeated bouts of pneumonia. The translocation involved the target region 4p16.3 of Wolf-Hirschhorn syndrome and/or Pitt-Rogers-Danks syndrome. The karyotype was 46,XY,der(4)t(4;10)(p16;q11.2),i(10)(p10),ish der(4)t(4;10)(p16.3;q11.2) (D4S96+,D4Z1+),i(10) (pter ++). In addition to growth retardation and external as well as internal dysmorphism, the patient had abnormalities of the immune system, such as thymic involution, generalized lymph node enlargement, unusual distribution of T cells in lymphoid follicles, and selective IgA deficiency. The IgA-producing cells were rarely found in lymph nodes but normally in intestinal mucosa. In contrast, in the lymph nodes, the paracortical T-lymphocytes were hyperplastic, but they rarely entered the primary follicles. It is assumed that the chromosomal abnormality may lead to the dysfunction of T lymphocytes and, further, to the dysgenesis of IgA-producing cells in lymph nodes but not in intestinal mucosa. This suggests that the thymus may differentially control the subsets of IgA-producing cells in lymph nodes and intestinal mucosa.
authors.affiliation: Departments of Pathology, Ohtsu Red Cross Hospital, Nagara, Ohtsu, Japan.
authors.forename: Tatsuyoshi
authors.initials: T
authors.lastname: Saiga
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Hashimoto
authors.forename: Nobusuke
authors.initials: N
authors.lastname: Kimura
authors.forename: Hisako
authors.initials: H
authors.lastname: Ono
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hiai
mesh_terms: D001344:Autopsy; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D006801:Humans; D017098:IgA Deficiency / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D007070:Immunoglobulin A / Q000378:metabolism*; D007223:Infant; D007413:Intestinal Mucosa / Q000276:immunology / Q000473:pathology; D008221:Lymphoid Tissue / Q000378:metabolism / Q000473:pathology*; D008297:Male; D010641:Phenotype; D013601:T-Lymphocytes / Q000378:metabolism* / Q000473:pathology*; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*
chemical_list: D007070:Immunoglobulin A