DISEASE: Activated PI3K-delta syndrome


Entry
H01387                      Disease                                
Name
Activated PI3K-delta syndrome
  Supergrp
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]
Description
Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. A dominant gain-of-function mutation has been found in the p110-delta protein, the catalytic subunit of phosphoinositide 3-kinase delta (PI3K-delta), encoded by the PIK3CD gene.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01387  Activated PI3K-delta syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01387  Activated PI3K-delta syndrome
Related
pathway
hsa00562  Inositol phosphate metabolism
hsa04151  PI3K-Akt signaling pathway
Gene
(APDS/IMD14) PIK3CD [HSA:5293] [KO:K00922]
(APDS2/IMD36) PIK3R1 [HSA:5295] [KO:K02649]
Other DBs
ICD-11: 4A01.1Y
ICD-10: D81.8
OMIM: 615513 616005
Reference
PMID:24136356
  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
PMID:27221134
  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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Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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