Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficieney: A genetic syndrome?

Elisabeth E. Adderson, David H. Viskochil, John C. Carey, Ann O. Shigeoka, John C. Christenson, John F. Bohnsack, Harry R. Hill

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, deficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia. Poor growth, intracranial calcifications, developmental delay, and hematological abnormalities are common manifestations of congenital infection. However, humoral immunodeficiency is not characteristic in these infections, and no infection was found on extensive evaluation. Rare genetic syndromes may mimic intra-uterine infections and may also include immunodeficiency. However the children reported here lack important characteristics or share distinctive manifestations not described in these disorders. Infants presenting with apparent congenital infections in whom a specific infectious cause cannot be identified should be followed carefully with immunological evaluations since this disorder may be progressive and considerable morbidity is attributable to hematological and immunological manifestations. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)17-20
Number of pages4
JournalAmerican journal of medical genetics
Volume95
Issue number1
DOIs
StatePublished - Nov 6 2000

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Keywords

  • Agammaglobulinemia
  • Growth failure
  • Immunodeficiency
  • Intracranial calcification
  • Pancytopenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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