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Activating PIK3R1 Gene Mutation

MedGen UID:
1632326
•Concept ID:
C4684422
•
Cell or Molecular Dysfunction
Synonyms: Activating GRB1 Gene Mutation; Activating p85-ALPHA Gene Mutation; Activating Phosphoinositide-3-Kinase Regulatory Subunit 1 Gene Mutation; PIK3R1 Activating Mutation

Definition

A change in the nucleotide sequence of the PIK3R1 gene that that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit alpha and its downstream signaling pathways. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVActivating PIK3R1 Gene Mutation

Professional guidelines

PubMed

Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
Distinct Molecular Profiles and Immunotherapy Treatment Outcomes of V600E and V600K BRAF-Mutant Melanoma.
Pires da Silva I, Wang KYX, Wilmott JS, Holst J, Carlino MS, Park JJ, Quek C, Wongchenko M, Yan Y, Mann G, Johnson DB, McQuade JL, Rai R, Kefford RF, Rizos H, Scolyer RA, Yang JYH, Long GV, Menzies AM
Clin Cancer Res 2019 Feb 15;25(4):1272-1279. Epub 2019 Jan 10 doi: 10.1158/1078-0432.CCR-18-1680. PMID: 30630828Free PMC Article
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article

Recent clinical studies

Etiology

Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia.
Cheon H, Xing JC, Moosic KB, Ung J, Chan VW, Chung DS, Toro MF, Elghawy O, Wang JS, Hamele CE, Hardison RC, Olson TL, Tan SF, Feith DJ, Ratan A, Loughran TP
Blood 2022 May 19;139(20):3058-3072. doi: 10.1182/blood.2021013164. PMID: 35015834Free PMC Article
PI3K pathway defects leading to immunodeficiency and immune dysregulation.
Nunes-Santos CJ, Uzel G, Rosenzweig SD
J Allergy Clin Immunol 2019 May;143(5):1676-1687. doi: 10.1016/j.jaci.2019.03.017. PMID: 31060715
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, McCastlain K, Edmonson M, Pounds SB, Shi L, Zhou X, Ma X, Sioson E, Li Y, Rusch M, Gupta P, Pei D, Cheng C, Smith MA, Auvil JG, Gerhard DS, Relling MV, Winick NJ, Carroll AJ, Heerema NA, Raetz E, Devidas M, Willman CL, Harvey RC, Carroll WL, Dunsmore KP, Winter SS, Wood BL, Sorrentino BP, Downing JR, Loh ML, Hunger SP, Zhang J, Mullighan CG
Nat Genet 2017 Aug;49(8):1211-1218. Epub 2017 Jul 3 doi: 10.1038/ng.3909. PMID: 28671688Free PMC Article

Diagnosis

Systematic review of mortality and survival rates for APDS.
Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article
Genomic profile of Chinese patients with endometrial carcinoma.
Li J, Li X, Quan C, Li X, Wan C, Wu X
BMC Cancer 2023 Sep 20;23(1):888. doi: 10.1186/s12885-023-11382-4. PMID: 37730563Free PMC Article
The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity.
Tsay A, Wang JC
Int J Mol Sci 2023 Aug 11;24(16) doi: 10.3390/ijms241612665. PMID: 37628845Free PMC Article
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article

Therapy

Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article
Genomics to immunotherapy of ovarian clear cell carcinoma: Unique opportunities for management.
Oda K, Hamanishi J, Matsuo K, Hasegawa K
Gynecol Oncol 2018 Nov;151(2):381-389. Epub 2018 Sep 12 doi: 10.1016/j.ygyno.2018.09.001. PMID: 30217369Free PMC Article
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
Michalovich D, Nejentsev S
Front Immunol 2018;9:369. Epub 2018 Feb 27 doi: 10.3389/fimmu.2018.00369. PMID: 29535736Free PMC Article

Prognosis

Genomic profile of Chinese patients with endometrial carcinoma.
Li J, Li X, Quan C, Li X, Wan C, Wu X
BMC Cancer 2023 Sep 20;23(1):888. doi: 10.1186/s12885-023-11382-4. PMID: 37730563Free PMC Article
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcherbina A, Slatter MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan JL, Suarez F, Tommasini A, Trück J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl S; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2023 Oct;152(4):984-996.e10. Epub 2023 Jun 28 doi: 10.1016/j.jaci.2023.06.015. PMID: 37390899
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
NSUN2 modified by SUMO-2/3 promotes gastric cancer progression and regulates mRNA m5C methylation.
Hu Y, Chen C, Tong X, Chen S, Hu X, Pan B, Sun X, Chen Z, Shi X, Hu Y, Shen X, Xue X, Lu M
Cell Death Dis 2021 Sep 9;12(9):842. doi: 10.1038/s41419-021-04127-3. PMID: 34504059Free PMC Article
PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.
Yazdani R, Hamidi Z, Babaha F, Azizi G, Fekrvand S, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2019;19(7):941-958. doi: 10.2174/1871530319666190225114739. PMID: 30799802

Clinical prediction guides

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcherbina A, Slatter MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan JL, Suarez F, Tommasini A, Trück J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl S; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2023 Oct;152(4):984-996.e10. Epub 2023 Jun 28 doi: 10.1016/j.jaci.2023.06.015. PMID: 37390899
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia.
Cheon H, Xing JC, Moosic KB, Ung J, Chan VW, Chung DS, Toro MF, Elghawy O, Wang JS, Hamele CE, Hardison RC, Olson TL, Tan SF, Feith DJ, Ratan A, Loughran TP
Blood 2022 May 19;139(20):3058-3072. doi: 10.1182/blood.2021013164. PMID: 35015834Free PMC Article
NSUN2 modified by SUMO-2/3 promotes gastric cancer progression and regulates mRNA m5C methylation.
Hu Y, Chen C, Tong X, Chen S, Hu X, Pan B, Sun X, Chen Z, Shi X, Hu Y, Shen X, Xue X, Lu M
Cell Death Dis 2021 Sep 9;12(9):842. doi: 10.1038/s41419-021-04127-3. PMID: 34504059Free PMC Article
Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.
Condliffe AM, Chandra A
Front Immunol 2018;9:338. Epub 2018 Mar 5 doi: 10.3389/fimmu.2018.00338. PMID: 29556229Free PMC Article

Recent systematic reviews

Systematic review of mortality and survival rates for APDS.
Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article

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