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01-10-2014 | Original Research

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

Authors: Asbjorg Stray-Pedersen, Emmanuelle Jouanguy, Amandine Crequer, Alison A. Bertuch, Betty S. Brown, Shalini N. Jhangiani, Donna M. Muzny, Tomasz Gambin, Hanne Sorte, Ghadir Sasa, Denise Metry, Judith Campbell, Marianna M. Sockrider, Megan K. Dishop, David M. Scollard, Richard A. Gibbs, Emily M. Mace, Jordan S. Orange, James R. Lupski, Jean-Laurent Casanova, Lenora M. Noroski

Published in: Journal of Clinical Immunology | Issue 7/2014

Abstract

Purpose

Coronin-1A deficiency is a recently recognized autosomal recessive primary immunodeficiency caused by mutations in CORO1A (OMIM 605000) that results in T-cell lymphopenia and is classified as T^-B⁺NK⁺severe combined immunodeficiency (SCID). Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred.

Methods

We captured a 10-year analysis of the immune-clinical phenotypes in two affected siblings from disease debut of age 7 years. Target-specific genetic studies were pursued but unrevealing. Telomere lengths were also assessed. Whole exome sequencing (WES) uncovered the molecular diagnosis and Western blot validated findings.

Results

We found the compound heterozygous CORO1A variants: c.248_249delCT (p.P83RfsX10) and a novel mutation c.1077delC (p.Q360RfsX44) (NM_007074.3) in two affected non-consanguineous siblings that manifested as absent CD4CD45RA⁺ (naïve) T and memory B cells, low NK cells and abnormally increased double-negative (DN) ϒδ T-cells. Distinguishing characteristics were late clinical debut with an unusual mucocutaneous syndrome of epidermodysplasia verruciformis-human papilloma virus (EV-HPV), molluscum contagiosum and oral-cutaneous herpetic ulcers; the older female sibling also had a disfiguring granulomatous tuberculoid leprosy. Both had bilateral bronchiectasis and the female died of EBV+ lymphomas at age 16 years. The younger surviving male, without malignancy, had reproducibly very short telomere lengths, not before appreciated in CORO1A mutations.

Conclusion

We reveal the third CORO1A-mutated kindred, with the immune phenotype of abnormal naïve CD4 and DN T-cells and newfound characteristics of a late/hypomorphic-like SCID of an EV-HPV mucocutaneous syndrome with also B and NK defects and shortened telomeres. Our findings contribute to the elucidation of the CORO1A-SCID-CID spectrum.

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Title: Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
Authors: Asbjorg Stray-Pedersen
Emmanuelle Jouanguy
Amandine Crequer
Alison A. Bertuch
Betty S. Brown
Shalini N. Jhangiani
Donna M. Muzny
Tomasz Gambin
Hanne Sorte
Ghadir Sasa
Denise Metry
Judith Campbell
Marianna M. Sockrider
Megan K. Dishop
David M. Scollard
Richard A. Gibbs
Emily M. Mace
Jordan S. Orange
James R. Lupski
Jean-Laurent Casanova
Lenora M. Noroski
Publication date: 01-10-2014
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 7/2014
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-014-0074-8

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