Author/Editor		Blazina, Štefan; Ihan, Alojz; Lovrečić, Luca; Hovnik, Tinka
Title		11q terminal deletion and combined immunodeficiency (Jacobsen syndrome)
Type		članek
Publication year		2016
ISSN		1552-4825 - American journal of medical genetics. Part A
Language		eng
Abstract		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.
Keywords		Jacobsen syndrome immunodeficiency antibody Jakobsenov sindrom imunska pomanjkljivost protitelesa