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Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

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Abstract

Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vořechovský et al. (Am J Hum Genet 64:1096–1109, 1999; J Immunol 164:4408–4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at θ=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with α=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001).

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Acknowledgements

We thank the families and their physicians for their participation in this research study supported by the Intramural Research Program at the National Institutes of Health, by grant SFB620-C2 from the Deutsche Forschungsgemeinschaft, by a grant from the Swedish research council, and by EU-Project QLRT-2001-01536 (IMPAD).

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Authors and Affiliations

  1. Department of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A/Rm. 6S608; 8600 Rockville Pike, Bethesda, MD, 20894, USA

    Alejandro A. Schäffer

  2. Division of Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Freiburg, Germany

    Jessica Pfannstiel & Bodo Grimbacher

  3. Department of Clinical Immunology, Royal Free Hospital, London, UK

    A. David B. Webster

  4. Department of Pediatrics and Institute of Medicine “Angelo Novicelli”, University of Brescia, Brescia, Italy

    Alessandro Plebani

  5. Division of Clinical Immunology, Karolinska Institute at Huddinge, Stockholm, Sweden

    Lennart Hammarström

Authors
  1. Alejandro A. Schäffer
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  2. Jessica Pfannstiel
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  3. A. David B. Webster
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  4. Alessandro Plebani
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  5. Lennart Hammarström
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  6. Bodo Grimbacher
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Correspondence to Alejandro A. Schäffer.

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Schäffer, A.A., Pfannstiel, J., Webster, A.D.B. et al. Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Hum Genet 118, 725–729 (2006). https://doi.org/10.1007/s00439-005-0101-1

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  • DOI: https://doi.org/10.1007/s00439-005-0101-1

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