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Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome
Author(s) -
von Bubnoff Dagmar,
KreißNachtsheim Martina,
Novak Natalija,
Engels Eva,
Engels Hartmut,
Behrend Claudia,
Propping Peter,
de la Salle Henri,
Bieber Thomas
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20592
Subject(s) - short stature , karyotype , imperforate anus , medicine , primary immunodeficiency , atresia , pediatrics , strabismus , immunodeficiency , surgery , disease , chromosome , pathology , biology , immunology , genetics , immune system , gene
We describe a 34‐year‐old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T‐helper cells, and a low serum immunoglobulin M (IgM)‐level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome. © 2003 Wiley‐Liss, Inc.