AUTHOR=Sloboda Natacha , Sorlin Arthur , Valduga Mylène , Beri-Dexheimer Mylène , Bilbault Claire , Fouyssac Fanny , Becker Aurélie , Lambert Laëtitia , Bonnet Céline , Leheup Bruno 

TITLE=Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

JOURNAL=Frontiers in Immunology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.01871

DOI=10.3389/fimmu.2019.01871

ISSN=1664-3224

ABSTRACT=<p><bold>Background:</bold> We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from a balanced maternal translocation, with deletions of 7p22 and of 15q11 [arr[GRCh37] 7p22.3-p22.2(42976-3736851)x1, 15q11.1-q11.2(20172544-24979427)x1].</p><p><bold>Methods:</bold> We used aCGH array, FISH, and karyotype for studying the phenotype of the two patients.</p><p><bold>Results:</bold> The 7p22 deletion (3.5 Mb) contained 58 genes, including several OMIM genes. Patients 1 and 2 exhibited acquisition delays, morphological particularities, and hypogammaglobulinemia, which was more severe in patient 1. Patient 1 presented also with cerebral vasculitis.</p><p><bold>Conclusion:</bold> We discuss here how the PDGFa, CARD11, LFNG, GPER1, and MAFK genes, included in the deletion 7p22, could be involved in the clinical and biological features of the two patients.</p>