240 related articles for article (PubMed ID: 23561803)
1. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.
Greil J; Rausch T; Giese T; Bandapalli OR; Daniel V; Bekeredjian-Ding I; Stütz AM; Drees C; Roth S; Ruland J; Korbel JO; Kulozik AE
J Allergy Clin Immunol; 2013 May; 131(5):1376-83.e3. PubMed ID: 23561803
[TBL] [Abstract][Full Text] [Related]
2. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
Stepensky P; Keller B; Buchta M; Kienzler AK; Elpeleg O; Somech R; Cohen S; Shachar I; Miosge LA; Schlesier M; Fuchs I; Enders A; Eibel H; Grimbacher B; Warnatz K
J Allergy Clin Immunol; 2013 Feb; 131(2):477-85.e1. PubMed ID: 23374270
[TBL] [Abstract][Full Text] [Related]
3. Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
Dadi H; Jones TA; Merico D; Sharfe N; Ovadia A; Schejter Y; Reid B; Sun M; Vong L; Atkinson A; Lavi S; Pomerantz JL; Roifman CM
J Allergy Clin Immunol; 2018 May; 141(5):1818-1830.e2. PubMed ID: 28826773
[TBL] [Abstract][Full Text] [Related]
4. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S; Rensing-Ehl A; Pannicke U; Lorenz MR; Fisch P; Jeelall Y; Rohr J; Speckmann C; Vraetz T; Farmand S; Schmitt-Graeff A; Krüger M; Strahm B; Henneke P; Enders A; Horikawa K; Goodnow C; Schwarz K; Ehl S
Blood; 2015 Oct; 126(14):1658-69. PubMed ID: 26289640
[TBL] [Abstract][Full Text] [Related]
5. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B; Stinson JR; Ma CA; Weinreich MA; Miraghazadeh B; Hartberger JM; Frey-Jakobs S; Weidinger S; Moebus L; Franke A; Schäffer AA; Bulashevska A; Fuchs S; Ehl S; Limaye S; Arkwright PD; Briggs TA; Langley C; Bethune C; Whyte AF; Alachkar H; Nejentsev S; DiMaggio T; Nelson CG; Stone KD; Nason M; Brittain EH; Oler AJ; Veltri DP; Leahy TR; Conlon N; Poli MC; Borzutzky A; Cohen JI; Davis J; Lambert MP; Romberg N; Sullivan KE; Paris K; Freeman AF; Lucas L; Chandrakasan S; Savic S; Hambleton S; Patel SY; Jordan MB; Theos A; Lebensburger J; Atkinson TP; Torgerson TR; Chinn IK; Milner JD; Grimbacher B; Cook MC; Snow AL
J Allergy Clin Immunol; 2019 Apr; 143(4):1482-1495. PubMed ID: 30170123
[TBL] [Abstract][Full Text] [Related]
6. The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Lu HY; Sharma M; Biggs CM; Huang YH; Shopsowitz KE; Frosk P; Priatel JJ; Rubin TS; Turvey SE
Pediatr Allergy Immunol; 2018 Sep; 29(6):663-668. PubMed ID: 29808493
[No Abstract] [Full Text] [Related]
7. Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.
Lu HY; Sharma M; Sharma AA; Lacson A; Szpurko A; Luider J; Dharmani-Khan P; Shameli A; Bell PA; Guilcher GMT; Lewis VA; Vasquez MR; Desai S; McGonigle L; Murguia-Favela L; Wright NAM; Sergi C; Wine E; Overall CM; Suresh S; Turvey SE
J Allergy Clin Immunol; 2021 Dec; 148(6):1559-1574.e13. PubMed ID: 33872653
[TBL] [Abstract][Full Text] [Related]
8. Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.
Brohl AS; Stinson JR; Su HC; Badgett T; Jennings CD; Sukumar G; Sindiri S; Wang W; Kardava L; Moir S; Dalgard CL; Moscow JA; Khan J; Snow AL
J Clin Immunol; 2015 Jan; 35(1):32-46. PubMed ID: 25352053
[TBL] [Abstract][Full Text] [Related]
9. Deficiency of innate and acquired immunity caused by an IKBKB mutation.
Pannicke U; Baumann B; Fuchs S; Henneke P; Rensing-Ehl A; Rizzi M; Janda A; Hese K; Schlesier M; Holzmann K; Borte S; Laux C; Rump EM; Rosenberg A; Zelinski T; Schrezenmeier H; Wirth T; Ehl S; Schroeder ML; Schwarz K
N Engl J Med; 2013 Dec; 369(26):2504-14. PubMed ID: 24369075
[TBL] [Abstract][Full Text] [Related]
10. A Unique Heterozygous
Desjardins M; Arjunaraja S; Stinson JR; Dorjbal B; Sundaresan J; Niemela J; Raffeld M; Matthews HF; Wang A; Angelus P; Su HC; Mazer BD; Snow AL
Front Immunol; 2018; 9():2944. PubMed ID: 30619304
[TBL] [Abstract][Full Text] [Related]
11. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma.
Lenz G; Davis RE; Ngo VN; Lam L; George TC; Wright GW; Dave SS; Zhao H; Xu W; Rosenwald A; Ott G; Muller-Hermelink HK; Gascoyne RD; Connors JM; Rimsza LM; Campo E; Jaffe ES; Delabie J; Smeland EB; Fisher RI; Chan WC; Staudt LM
Science; 2008 Mar; 319(5870):1676-9. PubMed ID: 18323416
[TBL] [Abstract][Full Text] [Related]
12. Progressive B cell depletion in human MALT1 deficiency.
Sonoda M; Ishimura M; Eguchi K; Yada Y; Lenhartová N; Shiraishi A; Tanaka T; Sakai Y; Ohga S
Clin Exp Immunol; 2021 Dec; 206(3):237-247. PubMed ID: 34559885
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.
Tampella G; Baronio M; Vitali M; Soresina A; Badolato R; Giliani S; Plebani A; Lougaris V
J Investig Allergol Clin Immunol; 2011; 21(5):348-53. PubMed ID: 21905497
[TBL] [Abstract][Full Text] [Related]
14. Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.
Sadeghi-Shabestari M; Vesal S; Jabbarpour-Bonyadi M; de Villatay JP; Fischer A; Rezaei N
J Investig Allergol Clin Immunol; 2009; 19(6):494-6. PubMed ID: 20128425
[TBL] [Abstract][Full Text] [Related]
15. The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.
Lu HY; Bauman BM; Arjunaraja S; Dorjbal B; Milner JD; Snow AL; Turvey SE
Front Immunol; 2018; 9():2078. PubMed ID: 30283440
[TBL] [Abstract][Full Text] [Related]
16. Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy.
Zhao P; Meng Q; Huang Y; Zhang L; Luo S; Zhang X; Tan L; Zhou A; Xiong H; He X
Front Immunol; 2021; 12():676386. PubMed ID: 34557185
[TBL] [Abstract][Full Text] [Related]
17. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
Paganini I; Sestini R; Capone GL; Putignano AL; Contini E; Giotti I; Gensini F; Marozza A; Barilaro A; Porfirio B; Papi L
Clin Genet; 2017 Dec; 92(6):664-668. PubMed ID: 28657137
[TBL] [Abstract][Full Text] [Related]
18. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
Snow AL; Xiao W; Stinson JR; Lu W; Chaigne-Delalande B; Zheng L; Pittaluga S; Matthews HF; Schmitz R; Jhavar S; Kuchen S; Kardava L; Wang W; Lamborn IT; Jing H; Raffeld M; Moir S; Fleisher TA; Staudt LM; Su HC; Lenardo MJ
J Exp Med; 2012 Nov; 209(12):2247-61. PubMed ID: 23129749
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing of T
El Hawary R; Meshaal S; Mauracher AA; Opitz L; Abd Elaziz D; Lotfy S; Eldash A; Boutros J; Galal N; Pachlopnik Schmid J; Elmarsafy A
Clin Exp Immunol; 2021 Mar; 203(3):448-457. PubMed ID: 33040328
[TBL] [Abstract][Full Text] [Related]
20. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
Puck JM; Pepper AE; Bédard PM; Laframboise R
J Clin Invest; 1995 Feb; 95(2):895-9. PubMed ID: 7860773
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]