Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

Taco W Kuijpers; Anton Tool; Ivo van der Bijl; M de Boer; Michel van Houdt; Iris de Cuyper; Dirk Roos; Floris P J van Alphen; Karin van Leeuwen; Emma L Cambridge; Mark Arends; Gordon Dougan; Simon Clare; Ramiro Ramirez-Solis; Steven T Pals; David J Adams; Alexander B Meijer; Timo K van den Berg

doi:10.1016/j.jaci.2016.09.061

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

Taco W Kuijpers, Anton Tool, Ivo van der Bijl, M de Boer, Michel van Houdt, Iris de Cuyper, Dirk Roos, Floris P J van Alphen, Karin van Leeuwen, Emma L Cambridge, Mark Arends, Gordon Dougan, Simon Clare, Ramiro Ramirez-Solis, Steven T Pals, David J Adams, Alexander B Meijer, Timo K van den Berg

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

In a boy born of consanguineous parents, pulmonary infections, vasculitis-like episodes and generalized eczema were noted. The persistent leukocytosis and mild bleeding tendency was accompanied by an actin polymerization defect in his blood cells. Proteomics analysis revealed absence of the Arp2/3 complex component ARPC1B, caused by a homozygous indel mutation in the ARPC1B gene (c.491_495TCAAGdelCCTGCCCins). Arpc1b knock-out mice demonstrated clinical similarities with the patient. Together, these findings describe a novel combined immunodeficiency with recurrent infections, allergy and inflammation as the main clinical features of the ARPC1B gene defect.

Original language	English
Journal	Journal of Allergy and Clinical Immunology
Early online date	10 Dec 2016
DOIs	https://doi.org/10.1016/j.jaci.2016.09.061
Publication status	E-pub ahead of print - 10 Dec 2016

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Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiencyAccepted author manuscript, 182 KB

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Kuijpers, T. W., Tool, A., van der Bijl, I., Boer, M. D., van Houdt, M., de Cuyper, I., Roos, D., van Alphen, F. P. J., van Leeuwen, K., Cambridge, E. L., Arends, M., Dougan, G., Clare, S., Ramirez-Solis, R., Pals, S. T., Adams, D. J., Meijer, A. B., & van den Berg, T. K. (2016). Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. Journal of Allergy and Clinical Immunology. Advance online publication. https://doi.org/10.1016/j.jaci.2016.09.061

@article{3331c919977f4e44a3083d270a03e46e,

title = "Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency",

abstract = "In a boy born of consanguineous parents, pulmonary infections, vasculitis-like episodes and generalized eczema were noted. The persistent leukocytosis and mild bleeding tendency was accompanied by an actin polymerization defect in his blood cells. Proteomics analysis revealed absence of the Arp2/3 complex component ARPC1B, caused by a homozygous indel mutation in the ARPC1B gene (c.491_495TCAAGdelCCTGCCCins). Arpc1b knock-out mice demonstrated clinical similarities with the patient. Together, these findings describe a novel combined immunodeficiency with recurrent infections, allergy and inflammation as the main clinical features of the ARPC1B gene defect.",

author = "Kuijpers, {Taco W} and Anton Tool and {van der Bijl}, Ivo and Boer, {M de} and {van Houdt}, Michel and {de Cuyper}, Iris and Dirk Roos and {van Alphen}, {Floris P J} and {van Leeuwen}, Karin and Cambridge, {Emma L} and Mark Arends and Gordon Dougan and Simon Clare and Ramiro Ramirez-Solis and Pals, {Steven T} and Adams, {David J} and Meijer, {Alexander B} and {van den Berg}, {Timo K}",

year = "2016",

month = dec,

day = "10",

doi = "10.1016/j.jaci.2016.09.061",

language = "English",

journal = "Journal of Allergy and Clinical Immunology",

issn = "0091-6749",

publisher = "Mosby ",

}

Kuijpers, TW, Tool, A, van der Bijl, I, Boer, MD, van Houdt, M, de Cuyper, I, Roos, D, van Alphen, FPJ, van Leeuwen, K, Cambridge, EL, Arends, M, Dougan, G, Clare, S, Ramirez-Solis, R, Pals, ST, Adams, DJ, Meijer, AB & van den Berg, TK 2016, 'Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency', Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2016.09.061

TY - JOUR

T1 - Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

AU - Kuijpers, Taco W

AU - Tool, Anton

AU - van der Bijl, Ivo

AU - Boer, M de

AU - van Houdt, Michel

AU - de Cuyper, Iris

AU - Roos, Dirk

AU - van Alphen, Floris P J

AU - van Leeuwen, Karin

AU - Cambridge, Emma L

AU - Arends, Mark

AU - Dougan, Gordon

AU - Clare, Simon

AU - Ramirez-Solis, Ramiro

AU - Pals, Steven T

AU - Adams, David J

AU - Meijer, Alexander B

AU - van den Berg, Timo K

PY - 2016/12/10

Y1 - 2016/12/10

N2 - In a boy born of consanguineous parents, pulmonary infections, vasculitis-like episodes and generalized eczema were noted. The persistent leukocytosis and mild bleeding tendency was accompanied by an actin polymerization defect in his blood cells. Proteomics analysis revealed absence of the Arp2/3 complex component ARPC1B, caused by a homozygous indel mutation in the ARPC1B gene (c.491_495TCAAGdelCCTGCCCins). Arpc1b knock-out mice demonstrated clinical similarities with the patient. Together, these findings describe a novel combined immunodeficiency with recurrent infections, allergy and inflammation as the main clinical features of the ARPC1B gene defect.

AB - In a boy born of consanguineous parents, pulmonary infections, vasculitis-like episodes and generalized eczema were noted. The persistent leukocytosis and mild bleeding tendency was accompanied by an actin polymerization defect in his blood cells. Proteomics analysis revealed absence of the Arp2/3 complex component ARPC1B, caused by a homozygous indel mutation in the ARPC1B gene (c.491_495TCAAGdelCCTGCCCins). Arpc1b knock-out mice demonstrated clinical similarities with the patient. Together, these findings describe a novel combined immunodeficiency with recurrent infections, allergy and inflammation as the main clinical features of the ARPC1B gene defect.

U2 - 10.1016/j.jaci.2016.09.061

DO - 10.1016/j.jaci.2016.09.061

M3 - Article

SN - 0091-6749

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

ER -

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

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