The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1356-1358 , December 2009

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

  • Maurilia Fiorini, PhD

      Affiliations

    • “Angelo Nocivelli” Institute for Molecular Medicine, University of Brescia, Italy
    • These authors contributed equally to this work.
    • ,
  • Giovanna Piovani, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • These authors contributed equally to this work.
    • ,
  • Richard F. Schumacher, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Chiara Magri, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • ,
  • Valeria Bertini

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • ,
  • Evelina Mazzolari, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Lucia Notarangelo, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Luigi D. Notarangelo, MD

      Affiliations

    • Clinica Pediatrica, Ospedale dei Bambini, Spedali Civili, University of Brescia, Italy
    • Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, Mass
    • ,
  • Sergio Barlati, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy

References 

  1. Marlin SD, Morton CC, Anderson DC, Springer TA. LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells. J Exp Med. 1986;164:855–867
  2. Corbi AL, Larson RS, Kishimoto TK, Springer TA, Morton CC. Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95: identification of a gene cluster involved in cell adhesion. J Exp Med. 1988;167:1597–1607
  3. Solomon E, Palmer RW, Hing S, Law SK. Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization. Ann Hum Genet. 1988;52:123–128
  4. Fischer A, Lisowska-Grospierre B, Anderson DC, Springer TA. Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodefic Rev. 1988;1:39–54
  5. Arnaout MA. Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response. Immunol Rev. 1990;114:145–180
  6. Lejeune J, Berger R, Rethore MO, Archambault L, Jerome H, Thieffry S, et al. Partial monosomy for a small acrocentric chromosome. C R Hebd Seances Acad Sci. 1964;259:4187–4190
  7. Ieshima A, Ogasawara N, Yamamoto Y, Kuroki Y. A case of r(21) with stigmata of atypical Down syndrome. Hum Genet. 1980;55:65–69
  8. Ferrante E, Vignetti P, Antonelli M, Bruni L, Bertasi S, Chessa L. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature. Helv Paediatr Acta. 1983;38:73–80
  9. Shaffer LG, Tommerup NISCN. an international system for human cytogenetic nomenclature. Basel: S. Karger; 2005;

 Supported by Centro di Studio e ricerca sulle malattie Ereditarie and MIUR (to S.B.) and the Manton Foundation (to L.N.).

 Disclosure of potential conflict of interest: L. Notarangelo has received research support from the National Institutes of Health and the Manton Foundation. The rest of the authors have declared that they have no conflict of interest.

PII: S0091-6749(09)01252-4

doi: 10.1016/j.jaci.2009.07.058

The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1356-1358 , December 2009

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