223 related articles for article (PubMed ID: 31953711)
1. E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.
Wang Y; Chen X; Yang Q; Tang W; Jia Y; Zhou L; An Y; Zhang Z; Tang X; Zhao X
J Clin Immunol; 2020 Feb; 40(2):378-387. PubMed ID: 31953711
[TBL] [Abstract][Full Text] [Related]
2. [Clinical and immunological analysis of patients with activated phosphoinositide 3-kinase δ syndrome resulting from PIK3CD mutation].
Tang WJ; Wang W; Luo Y; Wang YP; Li L; An YF; Gou LJ; Ma MS; He TY; Yang J; Zhao XD; Song HM
Zhonghua Er Ke Za Zhi; 2017 Jan; 55(1):19-24. PubMed ID: 28072954
[No Abstract] [Full Text] [Related]
3. Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.
Wang Y; Wang W; Liu L; Hou J; Ying W; Hui X; Zhou Q; Liu D; Yao H; Sun J; Wang X
J Clin Immunol; 2018 Nov; 38(8):854-863. PubMed ID: 30499059
[TBL] [Abstract][Full Text] [Related]
4. Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.
Zhao P; Huang J; Fu H; Xu J; Li T; Zhang X; Meng Q; Zhang L; Tan L; Zhang W; Chen H; Lu X; Ding Y; He X
Pediatr Rheumatol Online J; 2024 Jan; 22(1):24. PubMed ID: 38287413
[TBL] [Abstract][Full Text] [Related]
5. Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review.
Yang X; Xi R; Bai J; Pan Y
Medicine (Baltimore); 2023 Feb; 102(5):e32816. PubMed ID: 36749229
[TBL] [Abstract][Full Text] [Related]
6. LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P; Garcia-Prat M; Martín-Nalda A; Franco-Jarava C; Rivière JG; Plaja A; Bezdan D; Bosio M; Martínez-Gallo M; Ossowski S; Colobran R
Front Immunol; 2018; 9():2397. PubMed ID: 30386343
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.
Luo Y; Xia Y; Wang W; Li Z; Jin Y; Gong Y; He T; Li Q; Li C; Yang J
Clin Immunol; 2018 Dec; 197():60-67. PubMed ID: 30138677
[TBL] [Abstract][Full Text] [Related]
8. [Clinical and genetic analysis for activated PI3K-δ syndrome by PIK3CD gene mutation].
Liu H; Tang XL; Liu JR; Li HM; Zhao SY
Zhonghua Er Ke Za Zhi; 2016 Sep; 54(9):698-702. PubMed ID: 27596086
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 30799802
[TBL] [Abstract][Full Text] [Related]
10. Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Xiao B; Wang L; Liu H; Fan Y; Xu Y; Sun Y; Qiu W
Mol Genet Genomic Med; 2019 Oct; 7(10):e00945. PubMed ID: 31454184
[TBL] [Abstract][Full Text] [Related]
11. Immunodeficiency due to a novel variant in PIK3CD: a case report.
Shashaani N; Chavoshzadeh Z; Ghasemi L; Ghotbabadi SH; Shiari S; Sharafian S; Shiari R
Pediatr Rheumatol Online J; 2023 Jul; 21(1):71. PubMed ID: 37475052
[TBL] [Abstract][Full Text] [Related]
12. The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Fekrvand S; Delavari S; Chavoshzadeh Z; Sherkat R; Mahdaviani SA; Sadeghi Shabestari M; Azizi G; Arzanian MT; Shahin Shamsian B; Eskandarzadeh S; Eslami N; Rae W; Condino-Neto A; Mohammadi J; Abolhassani H; Yazdani R; Aghamohammadi A
Immunol Invest; 2022 Apr; 51(3):644-659. PubMed ID: 33401995
[TBL] [Abstract][Full Text] [Related]
13. Case Report: Activating
Lu M; Gu W; Sheng Y; Wang J; Xu X
Front Immunol; 2021; 12():670312. PubMed ID: 33995405
[TBL] [Abstract][Full Text] [Related]
14. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI; Chandra A; Bacon CM; Babar J; Curtis J; Screaton N; Goodlad JR; Farmer G; Steele CL; Leahy TR; Doffinger R; Baxendale H; Bernatoniene J; Edgar JD; Longhurst HJ; Ehl S; Speckmann C; Grimbacher B; Sediva A; Milota T; Faust SN; Williams AP; Hayman G; Kucuk ZY; Hague R; French P; Brooker R; Forsyth P; Herriot R; Cancrini C; Palma P; Ariganello P; Conlon N; Feighery C; Gavin PJ; Jones A; Imai K; Ibrahim MA; Markelj G; Abinun M; Rieux-Laucat F; Latour S; Pellier I; Fischer A; Touzot F; Casanova JL; Durandy A; Burns SO; Savic S; Kumararatne DS; Moshous D; Kracker S; Vanhaesebroeck B; Okkenhaug K; Picard C; Nejentsev S; Condliffe AM; Cant AJ
J Allergy Clin Immunol; 2017 Feb; 139(2):597-606.e4. PubMed ID: 27555459
[TBL] [Abstract][Full Text] [Related]
15. Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M; Moniri S; Zaki-Dizaji M; Olbrich P; Yazdani R; Jadidi-Niaragh F; Aghamahdi F; Abolhassani H; Condliffe AM; Aghamohammadi A; Azizi G
Clin Rev Allergy Immunol; 2020 Dec; 59(3):323-333. PubMed ID: 31111319
[TBL] [Abstract][Full Text] [Related]
16. Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome.
Yin Z; Tian X; Zou R; He X; Chen K; Zhu C
Front Immunol; 2021; 12():813261. PubMed ID: 34992612
[TBL] [Abstract][Full Text] [Related]
17. Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Elgizouli M; Lowe DM; Speckmann C; Schubert D; Hülsdünker J; Eskandarian Z; Dudek A; Schmitt-Graeff A; Wanders J; Jørgensen SF; Fevang B; Salzer U; Nieters A; Burns S; Grimbacher B
Clin Exp Immunol; 2016 Feb; 183(2):221-9. PubMed ID: 26437962
[TBL] [Abstract][Full Text] [Related]
18. Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.
Saettini F; Pelagatti MA; Sala D; Moratto D; Giliani S; Badolato R; Biondi A
Immunol Lett; 2017 Oct; 190():279-281. PubMed ID: 28842185
[TBL] [Abstract][Full Text] [Related]
19. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y; Mitsui-Sekinaka K; Imai K; Yeh TW; Mitsuiki N; Asano T; Ohnishi H; Kato Z; Sekinaka Y; Zaha K; Kato T; Okano T; Takashima T; Kobayashi K; Kimura M; Kunitsu T; Maruo Y; Kanegane H; Takagi M; Yoshida K; Okuno Y; Muramatsu H; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Kojima S; Ogawa S; Ohara O; Okada S; Kobayashi M; Morio T; Nonoyama S
J Allergy Clin Immunol; 2016 Dec; 138(6):1672-1680.e10. PubMed ID: 27426521
[TBL] [Abstract][Full Text] [Related]
20. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the
Boluda-Navarro M; Ibáñez M; Liquori A; Franco-Jarava C; Martínez-Gallo M; Rodríguez-Vega H; Teresa J; Carreras C; Such E; Zúñiga Á; Colobran R; Cervera JV
Front Immunol; 2021; 12():625591. PubMed ID: 33868243
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]