Terminal deletion of 11q with significant late-onset combined immune deficiency.
OBJECTIVE
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.
Mikko
M
Seppänen
Hannele
H
Koillinen
Satu
S
Mustjoki
Mölkänen
M
Tomi
Kathleen E
KE
Sullivan
D017668:Age of Onset; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis; D008875:Middle Aged; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology