Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency
Abstract
Introduction: Coronin 1A belongs to a large family of actin regulatory proteins with a role in T cell homeostasis. A role for coronin 1A was also observed in macrophages, NK, and neuronal cells. To date, coronin 1A deficiency has been described in relatively few patients with combined immunodeficiency.
Aim: We studied here the molecular and genetic basis of immunodeficiency detected by newborn screening for severe combined immunodeficiency.
Methods: Patient data was collected in accordance with REB approved protocols. Immune work up, including T and B cell proliferative responses and serum concentrations of immunoglobulins, was performed. Next generation sequencing techniques and cellular analyses were also utilized.
Results: The patient presented with T cell lymphopenia, reduction in CD4+CD45Ra+ cells and hypogammaglobulinemia. Uniquely, she also had persistent severe neutropenia. Whole exome sequencing and Sanger confirmation revealed a novel homozygous mutation in coronin 1A.
Conclusion: Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening.
Statement of novelty: We report here a patient with a novel mutation in coronin 1A, identified during newborn screening with low T cell receptor excision circle levels and neutropenia, which is a unique finding in this condition.
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REFERENCES
Accetta Pedersen D.J., Verbsky J., and Routes J.M. 2011. Screening newborns for primary T-cell immunodeficiencies: Consensus and controversy. Expert Rev. Clin. Immunol. 7(6):761–768.
Ahmed Z., Shaw G., Sharma V.P., Yang C., McGowan E., and Dickson D.W. 2007. Actin-binding proteins coronin-1a and IBA-1 are effective microglial markers for immunohistochemistry. J. Histochem. Cytochem. 55(7):687–700.
Baker M.W., Laessig R.H., Katcher M.L., Routes J.M., Grossman W.J., Verbsky J., Kurtycz D.F., and Brokopp C.D. 2010. Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program. Public Health Rep. 125(2_suppl):88–95.
Blom M., Pico-Knijnenburg I., Sijne-van Veen M., Boelen A., Bredius R.G.M., van der Burg M., and Schielen P.C.J.I. 2017. An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program. Clin. Immunol. 180:106–110.
Combaluzier B. and Pieters J. 2009. Chemotaxis and phagocytosis in neutrophils is independent of coronin 1. J. Immunol. 182(5):2745–2752.
Cross C. 2013. Ontario newborns now screened for SCID. CMAJ. 185(13):E616.
Föger N., Rangell L., Danilenko D.M., and Chan A.C. 2006. Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis. Science. 313(5788):839–842.
Grogan A., Reeves E., Keep N., Wientjes F., Totty N.F., Burlingame A.L., Hsuan J.J., and Segal A.W. 1997. Cytosolic phox proteins interact with and regulate the assembly of coronin in neutrophils. J. Cell Sci. 110(Pt 24):3071–3081.
Jayachandran R., Sundaramurthy V., Combaluzier B., Mueller P., Korf H., Huygen K., Miyazaki T., Albrecht I., Massner J., and Pieters J. 2007. Survival of mycobacteria in macrophages is mediated by coronin 1-dependent activation of calcineurin. Cell. 130(1):37–50.
Kanegae M.P., Barreiros L.A., Mazzucchelli J.T., Hadachi S.M., de Figueiredo Ferreira Guilhoto L.M., Acquesta A.L., Genov I.R., Holanda S.M., Di Gesu R.S., Goulart A.L., Dos Santos A.M., Bellesi N., Costa-Carvalho B.T., and Condino-Neto A. 2016. Neonatal screening for severe combined immunodeficiency in Brazil. J. Pediatr. 92(4):374–380.
Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., McGhee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L. IV, Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., Puck J.M., and Bonagura V.R. 2014. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 312(7):729–738.
Mace E.M. and Orange J.S. 2014. Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A. Proc. Natl. Acad. Sci. USA. 111(18):6708–6713.
Martorella M., Barford K., Winkler B., and Deppmann C.D. 2017. Emergent role of coronin-1a in neuronal signaling. Vitam. Horm. 104:113–131.
Moriceau S., Kantari C., Mocek J., Davezac N., Gabillet J., Guerrera I.C., Brouillard F., Tondelier D., Sermet-Gaudelus I., Danel C., Lenoir G., Daniel S., Edelman A., and Witko-Sarsat V. 2009. Coronin-1 is associated with neutrophil survival and is cleaved during apoptosis: Potential implication in neutrophils from cystic fibrosis patients. J. Immunol. 182(11):7254–7263.
Moshous D. and de Villartay J.-P. 2014. The expanding spectrum of human coronin 1A deficiency. Curr. Allergy Asthma Rep. 14(12):481.
Moshous D., Martin E., Carpentier W., Lim A., Callebaut I., Canioni D., Hauck F., Majewski J., Schwartzentruber J., Nitschke P., Sirvent N., Frange P., Picard C., Blanche S., Revy P., Fischer A., Latour S., Jabado N., and de Villartay J.P. 2013. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J. Allergy Clin. Immunol. 131(6):1594–1603.e9.
Oku T., Itoh S., Okano M., Suzuki A., Suzuki K., Nakajin S., Tsuji T., Nauseef W.M., and Toyoshima S. 2003. Two regions responsible for the actin binding of p57, a mammalian coronin family actin-binding protein. Biol. Pharm. Bull. 26(4):409–416.
Pick R., Begandt D., Stocker T.J., Salvermoser M., Thome S., Bottcher R.T., Montanez E., Harrison U., Forne I., Khandoga A.G., Coletti R., Weckbach L.T., Brechtefeld D., Haas R., Imhof A., Massberg S., Sperandio M., and Walzog B. 2017. Coronin 1A, a novel player in integrin biology, controls neutrophil trafficking in innate immunity. Blood. 130(7):847–858.
Roifman C.M., Somech R., Kavadas F., Pires L., Nahum A., Dalal I., and Grunebaum E. 2012. Defining combined immunodeficiency. J. Allergy Clin. Immunol. 130(1):177–183.
Rybakin V. and Clemen C.S. 2005. Coronin proteins as multifunctional regulators of the cytoskeleton and membrane trafficking. BioEssays. 27(6):625–632.
Sharfe N., Nahum A., Newell A., Dadi H., Ngan B., Pereira S.L., Herbrick J.A., and Roifman C.M. 2014. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. J. Allergy Clin. Immunol. 133(3):807–817.
Shiow L.R., Roadcap D.W., Paris K., Watson S.R., Grigorova I.L., Lebet T., An J., Xu Y., Jenne C.N., Föger N., Sorensen R.U., Goodnow C.C., Bear J.E., Puck J.M., and Cyster J.G. 2008. The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat. Immunol. 9(11):1307–1315.
Shiow L.R., Paris K., Akana M.C., Cyster J.G., Sorensen R.U., and Puck J.M. 2009. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion. Clin. Immunol. 131(1):24–30.
Stavropoulos D.J., Merico D., Jobling R., Bowdin S., Monfared N., Thiruvahindrapuram B., Nalpathamkalam T., Pellecchia G., Yuen R.K.C., Szego M.J., Hayeems R.Z., Shaul R.Z., Brudno M., Girdea M., Frey B., Alipanahi B., Ahmed S., Babul-Hirji R., Porras R.B., Carter M.T., Chad L., Chaudhry A., Chitayat D., Doust S.J., Cytrynbaum C., Dupuis L., Ejaz R., Fishman L., Guerin A., Hashemi B., Helal M., Hewson S., Inbar-Feigenberg M., Kannu P., Karp N., Kim R., Kronick J., Liston E., MacDonald H., Mercimek-Mahmutoglu S., Mendoza-Londono R., Nasr E., Nimmo G., Parkinson N., Quercia N., Raiman J., Roifman M., Schulze A., Shugar A., Shuman C., Sinajon P., Siriwardena K., Weksberg R., Yoon G., Carew C., Erickson R., Leach R.A., Klein R., Ray P.N., Meyn M.S., Scherer S.W., Cohn R.D., and Marshall C.R. 2016. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genom. Med. 1(1):15012.
Stray-Pedersen A., Jouanguy E., Crequer A., Bertuch A.A., Brown B.S., Jhangiani S.N., Muzny D.M., Gambin T., Sorte H., Sasa G., Metry D., Campbell J., Sockrider M.M., Dishop M.K., Scollard D.M., Gibbs R.A., Mace E.M., Orange J.S., Lupski J.R., Casanova J.L., and Noroski L.M. 2014. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J. Clin. Immunol. 34(7):871–890.
Suzuki K., Nishihata J., Arai Y., Honma N., Yamamoto K., Irimura T., and Toyoshima S. 1995. Molecular cloning of a novel actin-binding protein, p57, with a WD repeat and a leucine zipper motif. FEBS Lett. 364(3):283–288.
van der Spek J., Groenwold R.H., van der Burg M., and van Montfrans J.M. 2015. TREC based newborn screening for severe combined immunodeficiency disease: A systematic review. J. Clin. Immunol. 35(4):416–430.
Wang K., Li M., and Hakonarson H. 2010. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38(16):e164.
Xavier, C.P., Eichinger, L., Fernandez, M.P., Morgan, R.O., and Clemen, C.S. 2008. Evolutionary and functional diversity of coronin proteins. In The coronin family of proteins. Subcellular biochemistry. Edited by C.S. Clemen, L. Eichinger, and V. Rybakin. New York, NY, USA: Springer New York. Vol. 48, pp. 98–109.
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Published In
LymphoSign Journal
Volume 6 • Number 1 • March 2019
Pages: 17 - 25
History
Received: 15 January 2019
Accepted: 20 February 2019
Accepted manuscript online: 22 February 2019
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© 2019.
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YaelDinur Schejter, AmarillaMandola, and BrendaReid. 2019. Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency. LymphoSign Journal.
6(1): 17-25. https://doi.org/10.14785/lymphosign-2019-0001
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