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

Content Provider	Springer Nature Link
Author	Seppänen, Mikko Koillinen, Hannele Mustjoki, Satu Tomi, Mölkänen Sullivan, Kathleen E.
Copyright Year	2013
Abstract	We report a 45-year old female adult patient with terminal deletion of chromosome 11q resulting in clinical phenotype of late-onset combined immunodeficiency.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.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.This confirms Jacobsen syndrome as a chromosome deletion syndrome able to cause combined immunodeficiency.
Starting Page	114
Ending Page	118
Page Count	5
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	34
Issue Number	1
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2013-11-15
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Immunologic deficiency syndromes IgG deficiency Jacobsen distal 11q deletion syndrome DiGeorge syndrome thrombocytopenia condylomata acuminata Immunology Infectious Diseases Internal Medicine Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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