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

Abstract

This confirms Jacobsen syndrome as a chromosome deletion syndrome able to cause combined immunodeficiency.

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome

“…Special emphasis has been given to deciphering gene candidates for specific phenotypic features, mostly cognitive and behavioral characteristics, immune system disturbances, and congenital heart anomalies. Six genes from common deleted region are related to immune system regulation and response —TIRAP, ETS1, FLI‐1, NFRKB, THYN1, SNX19 , and all are deleted in our patient as well [Seppänen et al, ; Favier et al, ]. At the same time, our patient has a bigger deletion, extending proximally for additional 3,2 Mb compared to the case, reported by Seppänen et al [].…”

“…Six genes from common deleted region are related to immune system regulation and response —TIRAP, ETS1, FLI‐1, NFRKB, THYN1, SNX19 , and all are deleted in our patient as well [Seppänen et al, ; Favier et al, ]. At the same time, our patient has a bigger deletion, extending proximally for additional 3,2 Mb compared to the case, reported by Seppänen et al []. In this region, there is another gene, SIAE , known to be involved in enhanced B cell receptor activation and defects in peripheral B cell development [Cariappa et al, ].…”

“…Only serum IgA levels were measured in a minority of these patients [Grossfeld et al, ]. Thorough immunologic evaluation, including T‐cell concentration and proliferation response to mitogens was performed only in a few patients and showed combined immunodeficiency in both children and adults [von Bubnoff et al, ; Fernández‐San José et al, ; Seppänen et al, ].…”

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

“…Epidemiological studies have revealed that BP is significantly associated with neurological disorders, especially dementia, Parkinson disease, multiple sclerosis and cerebrovascular diseases (121)(122)(123)(124)(125)(126)(127)(128)(129)(130)(131)(132)(133)(134)(135)(136)(137)(138)(139)(140) [for a review, see (141)]. Furthermore, patients with neurological diseases appear to be at increased risk for subsequently developing BP.…”

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis

“…Kidney (8-13%), gastrointestinal (18%), genitalia (36-60%), and brain (51-65%) defects, as well as skeletal dysplasia (14%) can also be present. Behavioral and psychiatric disorders, hearing, immunological and hormonal problems have also been observed [Grossfeld et al, 2004;Manolakos et al, 2009;Mattina et al, 2009;Seppänen et al, 2014;Akshoomoff et al, 2015;Favier et al, 2015]. Several patients with 11q23.3q25 deletions ranging in size from 2.8 to 14 Mb revealed by molecular karyotyping have been reported, but only 17 patients have complete clinical data [Wenger et al, 2006;Bernaciak et al, 2008;Tyson et al, 2008;Manolakos et al, 2009;Ji et al, 2010;Wu et al, 2010;Ye et al, 2010;Guerin et al, 2012, Trkova et al, 2012Sheth et al, 2014;So et al, 2014;Xu et al, 2014;Malia et al, 2015;Maruani et al, 2015;Yamamoto et al, 2015].…”