KEGG   VARIANT: 5293v2
Entry
5293v2                      Variant                                
Name
PIK3CD gain-of-function mutation
Type
Gain of function
Gene
PIK3CD  phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [KO:K00922]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602839
Network
nt06537  TCR/BCR signaling
Disease
H01387  Activated PI3K-delta syndrome
H01725  Primary immunodeficiency disease
Reference
  Authors
Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debre M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S
  Title
Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage.
  Journal
Science 342:866-71 (2013)
DOI:10.1126/science.1243292
Reference
  Authors
Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S
  Title
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study.
  Journal
J Allergy Clin Immunol 138:210-218.e9 (2016)
DOI:10.1016/j.jaci.2016.03.022
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