Frontiers in Immunology (Aug 2019)

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

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

DOI
https://doi.org/10.3389/fimmu.2019.01871
Journal volume & issue
Vol. 10

Abstract

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Background: 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].Methods: We used aCGH array, FISH, and karyotype for studying the phenotype of the two patients.Results: 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.Conclusion: 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.

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