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Items: 1 to 20 of 95

1.

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.

Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B.

Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub 2012 May 17.

2.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.

J Allergy Clin Immunol. 2016 Jan;137(1):223-30. doi: 10.1016/j.jaci.2015.09.025.

PMID:
26768763
3.

Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-Rajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarström L.

J Clin Immunol. 2016 Jan;36(1):33-45. doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28. Review.

PMID:
26707784
4.

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

Schreiner F, Plamper M, Dueker G, Schoenberger S, Gámez-Díaz L, Grimbacher B, Hilger AC, Gohlke B, Reutter H, Woelfle J.

J Clin Endocrinol Metab. 2016 Mar;101(3):898-904. doi: 10.1210/jc.2015-3382. Epub 2016 Jan 8.

PMID:
26745254
5.

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Rekabi M, Eslami N, Ahmadian J, Darabi K, Sedighi GR, Monajemzadeh M, Modaresi M, Parvaneh N, Boztug K, Rezaei N.

Acta Med Iran. 2016 Oct;54(10):620-623.

6.

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA.

J Allergy Clin Immunol. 2015 Jan;135(1):217-27. doi: 10.1016/j.jaci.2014.10.019. Epub 2014 Nov 17.

7.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Lévy E, Stolzenberg MC, Bruneau J, Breton S, Neven B, Sauvion S, Zarhrate M, Nitschké P, Fischer A, Magérus-Chatinet A, Quartier P, Rieux-Laucat F.

Clin Immunol. 2016 Jul;168:88-93. doi: 10.1016/j.clim.2016.03.006. Epub 2016 Apr 5.

PMID:
27057999
8.

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, Gamez Diaz LY, Artan R, Sayar E, Ensari A, Grimbacher B, Boztug K.

Inflamm Bowel Dis. 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266.

PMID:
25479458
9.

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

Bakhtiar S, Ruemmele F, Charbit-Henrion F, Lévy E, Rieux-Laucat F, Cerf-Bensussan N, Bader P, Paetow U.

Front Pediatr. 2016 Sep 14;4:98. doi: 10.3389/fped.2016.00098. eCollection 2016 Sep 14.

10.

AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB.

Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663.

11.

An antibody-deficiency syndrome due to mutations in the CD19 gene.

van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL.

N Engl J Med. 2006 May 4;354(18):1901-12.

12.

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, Raddaoui E, Almomen AK, Al-Muhsen S, Geha RS, Alkuraya FS.

J Allergy Clin Immunol. 2012 Aug;130(2):481-8.e2. doi: 10.1016/j.jaci.2012.05.043. Epub 2012 Jun 19.

13.

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.

Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ.

Nature. 2002 Sep 26;419(6905):395-9.

PMID:
12353035
14.

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.

Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S.

J Allergy Clin Immunol. 2012 Dec;130(6):1428-32. doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14. No abstract available.

15.

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P.

Clin Immunol. 2015 Jul;159(1):84-92. doi: 10.1016/j.clim.2015.04.007. Epub 2015 Apr 27.

PMID:
25931386
16.

The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood.

Barroeta Seijas AB, Graziani S, Cancrini C, Finocchi A, Ferrari S, Miniero R, Conti F, Zuntini R, Chini L, Chiarello P, Bengala M, Rossi P, Moschese V, Di Matteo G.

Int J Immunopathol Pharmacol. 2012 Apr-Jun;25(2):407-14.

PMID:
22697072
17.

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Salzer E, Santos-Valente E, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Pickl WF, Förster-Waldl E, Boztug K.

Blood. 2013 Apr 18;121(16):3112-6. doi: 10.1182/blood-2012-10-460741. Epub 2013 Jan 14.

18.

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

Tesi B, Priftakis P, Lindgren F, Chiang SC, Kartalis N, Löfstedt A, Lörinc E, Henter JI, Winiarski J, Bryceson YT, Meeths M.

J Clin Immunol. 2016 Jul;36(5):480-9. doi: 10.1007/s10875-016-0289-y. Epub 2016 May 4.

PMID:
27146671
19.

Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.

Bakhtiar S, Gámez-Díaz L, Jarisch A, Soerensen J, Grimbacher B, Belohradsky B, Keller KM, Rietschel C, Klingebiel T, Koletzko S, Albert MH, Bader P.

Front Immunol. 2017 Jan 31;8:52. doi: 10.3389/fimmu.2017.00052. eCollection 2017 Jan 31.

20.

[Primary immunodeficiencies. Clinical features and variant forms].

Fontán Casariego G.

Allergol Immunopathol (Madr). 2001 May-Jun;29(3):101-7. Review. Spanish.

PMID:
11434882

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