11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.
Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T-cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T-cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome. In addition to low IgM, IgG4, and B-cells, also low recent thymic emigrants, helper and naïve T-cells were found. We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T-cell dysfunction might be more prevalent than previously reported. Patients with infections consistent with T-cell defects should be classified as having combined immunodeficiency. © 2016 Wiley Periodicals, Inc.
Department of Allergy, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Štefan
Š
Blazina
Institute of Microbiology and Immunology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Alojz
A
Ihan
Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Luca
L
Lovrečić
Unit of Special Laboratory Diagnostics, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Tinka
T
Hovnik
D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007132:Immunoglobulin Isotypes / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008214:Lymphocytes / Q000276:immunology / Q000378:metabolism; D010641:Phenotype
D007132:Immunoglobulin Isotypes
11q terminal deletion syndrome; Jacobsen syndrome; clinical presentation; combined immunodeficiency; immunological evaluation