KEGG   VARIANT: 1380v1
Entry
1380v1                      Variant                                
Name
CR2 mutation
Gene
CR2  complement C3d receptor 2 [KO:K04012]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120650
Network
nt06537  TCR/BCR signaling
Disease
H00088  Common variable immunodeficiency
Reference
  Authors
Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M
  Title
Genetic CD21 deficiency is associated with hypogammaglobulinemia.
  Journal
J Allergy Clin Immunol 129:801-810.e6 (2012)
DOI:10.1016/j.jaci.2011.09.027
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