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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Delfien Bogaert (UGent) , Melissa Dullaers (UGent) , Bart Lambrecht (UGent) , Karim Vermaelen (UGent) , Elfride De Baere (UGent) and Filomeen Haerynck (UGent)
(2016) JOURNAL OF MEDICAL GENETICS. 53(9). p.575-590
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Abstract
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2. With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. Moreover, there is accumulating evidence that at least a subgroup of patients with CVID has a complex rather than a monogenic inheritance. This review aims to discuss current knowledge regarding the molecular genetic basis of CVID with an emphasis on the relationship with the clinical and immunological phenotype.
Keywords
FUNCTION MUTATIONS, CD19 DEFICIENCY, IMMUNE DYSREGULATION, TNFRSF13C BAFF-R, B-CELL DEFICIENCY, FACTOR-RECEPTOR DEFICIENCY, INFLAMMATORY-BOWEL-DISEASE, KINASE-C-DELTA, ANTIBODY-DEFICIENCY SYNDROME, LOSS-OF-FUNCTION, Complex inheritance, Monogenic, Genetics, Common Variable Immunodeficiency, Hypogammaglobulinemia

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Chicago
Bogaert, Delfien, Melissa Dullaers, Bart Lambrecht, Karim Vermaelen, Elfride De Baere, and FILOMEEN HAERYNCK. 2016. “Genes Associated with Common Variable Immunodeficiency: One Diagnosis to Rule Them All?” Journal of Medical Genetics 53 (9): 575–590.
APA
Bogaert, Delfien, Dullaers, M., Lambrecht, B., Vermaelen, K., De Baere, E., & HAERYNCK, F. (2016). Genes associated with common variable immunodeficiency: one diagnosis to rule them all? JOURNAL OF MEDICAL GENETICS, 53(9), 575–590.
Vancouver
1.
Bogaert D, Dullaers M, Lambrecht B, Vermaelen K, De Baere E, HAERYNCK F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? JOURNAL OF MEDICAL GENETICS. 2016;53(9):575–90.
MLA
Bogaert, Delfien, Melissa Dullaers, Bart Lambrecht, et al. “Genes Associated with Common Variable Immunodeficiency: One Diagnosis to Rule Them All?” JOURNAL OF MEDICAL GENETICS 53.9 (2016): 575–590. Print.
@article{8099973,
  abstract     = {Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10\% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2. With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. Moreover, there is accumulating evidence that at least a subgroup of patients with CVID has a complex rather than a monogenic inheritance. This review aims to discuss current knowledge regarding the molecular genetic basis of CVID with an emphasis on the relationship with the clinical and immunological phenotype.},
  author       = {Bogaert, Delfien and Dullaers, Melissa and Lambrecht, Bart and Vermaelen, Karim and De Baere, Elfride and Haerynck, Filomeen},
  issn         = {0022-2593},
  journal      = {JOURNAL OF MEDICAL GENETICS},
  language     = {eng},
  number       = {9},
  pages        = {575--590},
  title        = {Genes associated with common variable immunodeficiency: one diagnosis to rule them all?},
  url          = {http://dx.doi.org/10.1136/jmedgenet-2015-103690},
  volume       = {53},
  year         = {2016},
}

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