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Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA‐producing cells in lymphoid tissue
Author(s) -
Saiga Tatsuyoshi,
Hashimoto Kazuhiro,
Kimura Nobusuke,
Ono Hisako,
Hiai Hiroshi
Publication year - 2007
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/j.1440-1827.2007.02054.x
Subject(s) - chromosomal translocation , trisomy , pathology , biology , lymph , lymph node , lymphatic system , thymic involution , immune system , immunology , t cell , medicine , genetics , gene
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.