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Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency

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Abstract

Purpose

We report a 45-year old female adult patient with terminal deletion of chromosome 11q resulting in clinical phenotype of late-onset combined immunodeficiency.

Methods

We describe the clinical phenotype and discuss the similarities between our patient and those with chromosome 22q11.2 deletion syndrome. Immunological evaluation included immunoglobulin levels, vaccine responses, number and function of T, NK and B cell subsets and comparative genomic hybridization test of blood and fibroblasts.

Results

The patient suffered from recurrent pneumococcal pneumonia and genital and cutaneous condylomas. She had a history of learning difficulties, dysmorphic features, autoimmune thyroiditis, chronic thrombocytopenia and severe asthma. We found Paris-Trousseau type thrombocytopenia, B-, T- and NK-lymphopenia, T cell oligoclonality and IgG hypogammaglobulinemia with inability to respond to pneumococcal polysaccharide, tetanus and diphtheria vaccines. A terminal deletion of chromosome 11q compatible with partial Jacobsen syndrome was found.

Conclusions

This confirms Jacobsen syndrome as a chromosome deletion syndrome able to cause combined immunodeficiency.

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Abbreviations

IgG:

Immunoglobulin G

IgA:

Immunoglobulin A

IgM:

Immunoglobulin M

LOCID:

Late-onset combined immunodeficiency

NK:

Natural killer cell

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Conflict of Interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Immunodeficiency Unit, Division of Infectious Diseases, Department of Medicine, Helsinki University Central Hospital, P.O.Box 348, 00029, Helsinki, Finland

    Mikko Seppänen

  2. Clinical Genetics Unit, Helsinki University Central Hospital, Helsinki, Finland

    Hannele Koillinen

  3. Hematology Research Unit, Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland

    Satu Mustjoki

  4. Department of Medicine, Hyvinkää Hospital, Hyvinkää, Finland

    Mölkänen Tomi

  5. Division of Allergy and Immunology, Childrens’ Hospital of Philadelphia, Philadelphia, PA, USA

    Kathleen E. Sullivan

Authors
  1. Mikko Seppänen
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  2. Hannele Koillinen
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  3. Satu Mustjoki
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  4. Mölkänen Tomi
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  5. Kathleen E. Sullivan
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Corresponding author

Correspondence to Mikko Seppänen.

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Seppänen, M., Koillinen, H., Mustjoki, S. et al. Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency. J Clin Immunol 34, 114–118 (2014). https://doi.org/10.1007/s10875-013-9966-2

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  • DOI: https://doi.org/10.1007/s10875-013-9966-2

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