486 related articles for article (PubMed ID: 25645939)
1. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.
Boisson B; Quartier P; Casanova JL
Curr Opin Immunol; 2015 Feb; 32():90-105. PubMed ID: 25645939
[TBL] [Abstract][Full Text] [Related]
2. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S; Casanova JL
J Allergy Clin Immunol; 2008 Dec; 122(6):1043-51; quiz 1052-3. PubMed ID: 19084105
[TBL] [Abstract][Full Text] [Related]
3. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Bousfiha A; Jeddane L; Al-Herz W; Ailal F; Casanova JL; Chatila T; Conley ME; Cunningham-Rundles C; Etzioni A; Franco JL; Gaspar HB; Holland SM; Klein C; Nonoyama S; Ochs HD; Oksenhendler E; Picard C; Puck JM; Sullivan KE; Tang ML
J Clin Immunol; 2015 Nov; 35(8):727-38. PubMed ID: 26445875
[TBL] [Abstract][Full Text] [Related]
4. Dysregulatory syndromes: the role of signal transducers and activators of transcription.
Bezrodnik L; Gaillard MI; Caldirola MS
Curr Opin Pediatr; 2018 Dec; 30(6):821-828. PubMed ID: 30407975
[TBL] [Abstract][Full Text] [Related]
5. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W; Chen X; Gao G; Xing S; Zhou L; Tang X; Zhao X; An Y
Front Immunol; 2021; 12():654406. PubMed ID: 33777053
[No Abstract] [Full Text] [Related]
6. Autosomal-dominant primary immunodeficiencies.
Lawrence T; Puel A; Reichenbach J; Ku CL; Chapgier A; Renner E; Minard-Colin V; Ouachée M; Casanova JL
Curr Opin Hematol; 2005 Jan; 12(1):22-30. PubMed ID: 15604887
[TBL] [Abstract][Full Text] [Related]
7. [Basics of primary immunodeficiencies].
Hernández-Martínez C; Espinosa-Rosales F; Espinosa-Padilla SE; Hernández-Martínez AR; Blancas-Galicia L
Rev Alerg Mex; 2016; 63(2):180-9. PubMed ID: 27174761
[TBL] [Abstract][Full Text] [Related]
8. Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
Boisson B; Puel A; Picard C; Casanova JL
J Clin Immunol; 2017 Jul; 37(5):397-412. PubMed ID: 28597146
[TBL] [Abstract][Full Text] [Related]
9. Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.
Blazina Š; Markelj G; Jeverica AK; Toplak N; Bratanič N; Jazbec J; Kopač P; Debeljak M; Ihan A; Avčin T
J Clin Immunol; 2016 Nov; 36(8):764-773. PubMed ID: 27582173
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W; Chou J; Delmonte OM; Massaad MJ; Bainter W; Castagnoli R; Klein C; Bryceson YT; Geha RS; Notarangelo LD
Front Immunol; 2018; 9():3146. PubMed ID: 30697212
[No Abstract] [Full Text] [Related]
11. The immunologic features of patients with early-onset and polyautoimmunity.
Hoyt KJ; Chatila TA; Notarangelo LD; Hazen MM; Janssen E; Henderson LA
Clin Immunol; 2020 Feb; 211():108326. PubMed ID: 31838215
[TBL] [Abstract][Full Text] [Related]
12. Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.
Pessach I; Walter J; Notarangelo LD
Pediatr Res; 2009 May; 65(5 Pt 2):3R-12R. PubMed ID: 19190530
[TBL] [Abstract][Full Text] [Related]
13. Genes at the Crossroad of Primary Immunodeficiencies and Cancer.
Derpoorter C; Bordon V; Laureys G; Haerynck F; Lammens T
Front Immunol; 2018; 9():2544. PubMed ID: 30443258
[TBL] [Abstract][Full Text] [Related]
14. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W; Ward D; Mattocks C; Pengelly RJ; Eren E; Patel SV; Faust SN; Hunt D; Williams AP
Clin Genet; 2018 Mar; 93(3):647-655. PubMed ID: 29077208
[TBL] [Abstract][Full Text] [Related]
15. Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.
Schnappauf O; Aksentijevich I
J Leukoc Biol; 2020 Aug; 108(2):573-589. PubMed ID: 32678922
[TBL] [Abstract][Full Text] [Related]
16. Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders.
Consonni F; Dotta L; Todaro F; Vairo D; Badolato R
Curr Opin Pediatr; 2017 Dec; 29(6):711-717. PubMed ID: 28914637
[TBL] [Abstract][Full Text] [Related]
17. Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Chen X; Chen J; Chen R; Mou H; Sun G; Yang L; Jia Y; Zhao Q; Wen W; Zhou L; Ding Y; Tang X; Yang J; An Y; Zhao X
J Clin Immunol; 2022 Nov; 42(8):1778-1794. PubMed ID: 35976469
[TBL] [Abstract][Full Text] [Related]
18. [The forefront of primary immunodeficiencies].
Hoshino A
Rinsho Ketsueki; 2018; 59(10):2195-2203. PubMed ID: 30305526
[TBL] [Abstract][Full Text] [Related]
19. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S; Cicalese MP; Tuijnenburg P; Tool ATJ; Cuadrado E; Abu-Halaweh M; Ahanchian H; Alzyoud R; Akdemir ZC; Barzaghi F; Blank A; Boisson B; Bottino C; Brigida I; Caorsi R; Casanova JL; Chiesa S; Chinn IK; Dückers G; Enders A; Erichsen HC; Forbes LR; Gambin T; Gattorno M; Karimiani EG; Giliani S; Gold MS; Jacobsen EM; Jansen MH; King JR; Laxer RM; Lupski JR; Mace E; Marcenaro S; Maroofian R; Meijer AB; Niehues T; Notarangelo LD; Orange J; Pannicke U; Pearson C; Picco P; Quinn PJ; Schulz A; Seeborg F; Stray-Pedersen A; Tawamie H; van Leeuwen EMM; Aiuti A; Yeung R; Schwarz K; Kuijpers TW
J Allergy Clin Immunol; 2019 Jun; 143(6):2296-2299. PubMed ID: 30771411
[No Abstract] [Full Text] [Related]
20. Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M; González-Granado LI; Ruiz-García R; Pleguezuelo D; Cabrera-Marante O; Salmón N; Blanco-Lobo P; Domínguez-Pinilla N; Rodríguez-Pena R; Sebastián E; Cruz-Rojo J; Olbrich P; Ruiz-Contreras J; Paz-Artal E; Neth O; Allende LM
Front Immunol; 2021; 12():671755. PubMed ID: 34447369
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]