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Article

Terminal deletion of 11q with significant late-onset combined immune deficiency.

Journal of clinical immunology - 1 Jan 2014

Seppänen Mikko, Koillinen Hannele, Mustjoki Satu, Tomi Mölkänen, Sullivan Kathleen E

Abstract excerpt

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,...

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Share to Chromosomes, Human, Pair 11

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Identifiers

PMID: 24233263
DOI: 10.1007/s10875-013-9966-2

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