Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child

R. E. Harris, R. L. Baehner, S. Gleiser, David Weaver, M. E. Hodes

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

An Amish boy with cartilage-hair hypoplasia (CHH) and cell-mediated immunodeficiency developed 'congenital' hypoplastic anemia (CHA) of the Diamond-Blackfan type by two months. Alterations of T-cell function have been described separately in CHH and CHA, but this is the first known report linking the two conditions. The patient has two relatives with CHH, one with associated leukemia and one with Hodgkin disease.

Original languageEnglish (US)
Pages (from-to)291-297
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume8
Issue number3
DOIs
StatePublished - 1981
Externally publishedYes

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Amish
Diamond-Blackfan Anemia
T-Lymphocytes
Congenital Hypoplastic Anemia
Hodgkin Disease
Leukemia
Cartilage-hair hypoplasia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. / Harris, R. E.; Baehner, R. L.; Gleiser, S.; Weaver, David; Hodes, M. E.

In: American Journal of Medical Genetics, Vol. 8, No. 3, 1981, p. 291-297.

Research output: Contribution to journalArticle

Harris, R. E. ; Baehner, R. L. ; Gleiser, S. ; Weaver, David ; Hodes, M. E. / Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. In: American Journal of Medical Genetics. 1981 ; Vol. 8, No. 3. pp. 291-297.
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