-
2
-
-
7044224342
-
ICOS deficiency in patients with common variable immunodeficiency
-
Salzer U., Maul-Pavicic A., Cunningham-Rundles C., Urschel S., Belohradsky B.H., Litzman J., Holm A., Franco J.L., Plebani A., Hammarstrom L., Skrabl A., Schwinger W., Grimbacher B. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 2004, 113(3):234-240.
-
(2004)
Clin Immunol
, vol.113
, Issue.3
, pp. 234-240
-
-
Salzer, U.1
Maul-Pavicic, A.2
Cunningham-Rundles, C.3
Urschel, S.4
Belohradsky, B.H.5
Litzman, J.6
Holm, A.7
Franco, J.L.8
Plebani, A.9
Hammarstrom, L.10
Skrabl, A.11
Schwinger, W.12
Grimbacher, B.13
-
3
-
-
23044463627
-
TACI is mutant in common variable immunodeficiency and IgA deficiency
-
Castigli E., Wilson S.A., Garibyan L., Rachid R., Bonilla F., Schneider L., Geha R.S. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005, 37(8):829-834.
-
(2005)
Nat Genet
, vol.37
, Issue.8
, pp. 829-834
-
-
Castigli, E.1
Wilson, S.A.2
Garibyan, L.3
Rachid, R.4
Bonilla, F.5
Schneider, L.6
Geha, R.S.7
-
4
-
-
23044443492
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
-
Salzer U., Chapel H.M., Webster A.D., Pan-Hammarström Q., Schmitt-Graeff A., Schlesier M., Peter H.H., Rockstroh J.K., Schneider P., Schäffer A.A., Hammarström L., Grimbacher B. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005, 37(8):820-828.
-
(2005)
Nat Genet
, vol.37
, Issue.8
, pp. 820-828
-
-
Salzer, U.1
Chapel, H.M.2
Webster, A.D.3
Pan-Hammarström, Q.4
Schmitt-Graeff, A.5
Schlesier, M.6
Peter, H.H.7
Rockstroh, J.K.8
Schneider, P.9
Schäffer, A.A.10
Hammarström, L.11
Grimbacher, B.12
-
5
-
-
69549128384
-
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans
-
Warnatz K., Salzer U., Rizzi M., Fischer B., Gutenberger S., Böhm J., Kienzler A.K., Pan-Hammarström Q., Hammarström L., Rakhmanov M., Schlesier M., Grimbacher B., Peter H.H., Eibel H. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A 2009, 106(33):13945-13950.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.33
, pp. 13945-13950
-
-
Warnatz, K.1
Salzer, U.2
Rizzi, M.3
Fischer, B.4
Gutenberger, S.5
Böhm, J.6
Kienzler, A.K.7
Pan-Hammarström, Q.8
Hammarström, L.9
Rakhmanov, M.10
Schlesier, M.11
Grimbacher, B.12
Peter, H.H.13
Eibel, H.14
-
6
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
van Zelm M.C., Reisli I., van der Burg M., Castaño D., van Noesel C.J., van Tol M.J., Woellner C., Grimbacher B., Patiño P.J., van Dongen J.J., Franco J.L. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Eng J Med 2006, 354(18):1901-1912.
-
(2006)
N Eng J Med
, vol.354
, Issue.18
, pp. 1901-1912
-
-
van Zelm, M.C.1
Reisli, I.2
van der Burg, M.3
Castaño, D.4
van Noesel, C.J.5
van Tol, M.J.6
Woellner, C.7
Grimbacher, B.8
Patiño, P.J.9
van Dongen, J.J.10
Franco, J.L.11
-
7
-
-
77951146803
-
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
-
van Zelm M.C., Smet J., Adams B., Mascart F., Schandené L., Janssen F., Ferster A., Kuo C.C., Levy S., van Dongen J.J., van der Burg M. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest 2010, 120(4):1265-1274.
-
(2010)
J Clin Invest
, vol.120
, Issue.4
, pp. 1265-1274
-
-
van Zelm, M.C.1
Smet, J.2
Adams, B.3
Mascart, F.4
Schandené, L.5
Janssen, F.6
Ferster, A.7
Kuo, C.C.8
Levy, S.9
van Dongen, J.J.10
van der Burg, M.11
-
8
-
-
74949085764
-
Van Lier RA.CD20 deficiency in humans results in impaired T cell-independent antibody responses
-
Kuijpers T.W., Bende R.J., Baars P.A., Grummels A., Derks I.A., Dolman K.M., Beaumont T., Tedder T.F., van Noesel C.J., Eldering E. Van Lier RA.CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest 2010, 120(1):214-222.
-
(2010)
J Clin Invest
, vol.120
, Issue.1
, pp. 214-222
-
-
Kuijpers, T.W.1
Bende, R.J.2
Baars, P.A.3
Grummels, A.4
Derks, I.A.5
Dolman, K.M.6
Beaumont, T.7
Tedder, T.F.8
van Noesel, C.J.9
Eldering, E.10
-
9
-
-
34249850294
-
Role for Msh5 in the regulation of Ig class switch recombination
-
Sekine H., Ferreira R.C., Pan-Hammarström Q., Graham R.R., Ziemba B., de Vries S.S., Liu J., Hippen K., Koeuth T., Ortmann W., Iwahori A., Elliott M.K., Offer S., Skon C., Novitzke J., Lee A.T., Zhao N., Tompkins J.D., Altshuler D., Gregersen P.K., Cunningham-Rundles C., Harris R.S., Her C., Nelson D.L., Hammarström L., Gilkenson G.S., Behrens T.W. Role for Msh5 in the regulation of Ig class switch recombination. PNAS 2007, 104(17):7193-7198.
-
(2007)
PNAS
, vol.104
, Issue.17
, pp. 7193-7198
-
-
Sekine, H.1
Ferreira, R.C.2
Pan-Hammarström, Q.3
Graham, R.R.4
Ziemba, B.5
de Vries, S.S.6
Liu, J.7
Hippen, K.8
Koeuth, T.9
Ortmann, W.10
Iwahori, A.11
Elliott, M.K.12
Offer, S.13
Skon, C.14
Novitzke, J.15
Lee, A.T.16
Zhao, N.17
Tompkins, J.D.18
Altshuler, D.19
Gregersen, P.K.20
Cunningham-Rundles, C.21
Harris, R.S.22
Her, C.23
Nelson, D.L.24
Hammarström, L.25
Gilkenson, G.S.26
Behrens, T.W.27
more..
-
10
-
-
61849167388
-
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
-
Salzer U., Bacchelli C., Buckridge S., Pan-Hammarström Q., Jennings S., Lougaris V., Bergbreiter A., Hagena T., Birmelin J., Plebani A., Webster A.D., Peter H.H., Suez D., Chapel H., McLean-Tooke A., Spickett G.P., Anover-Sombke S., Ochs H.D., Urschel S., Belohradsky B.H., Ugrinovic S., Kumararatne D.S., Lawrence T.C., Holm A.M., Franco J.L., Schulze I., Schneider P., Gertz E.M., Schäffer A.A., Hammarström L., Thrasher A.J., Gaspar H.B., Grimbacher B. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood 2009, 113(9):1967-1976.
-
(2009)
Blood
, vol.113
, Issue.9
, pp. 1967-1976
-
-
Salzer, U.1
Bacchelli, C.2
Buckridge, S.3
Pan-Hammarström, Q.4
Jennings, S.5
Lougaris, V.6
Bergbreiter, A.7
Hagena, T.8
Birmelin, J.9
Plebani, A.10
Webster, A.D.11
Peter, H.H.12
Suez, D.13
Chapel, H.14
McLean-Tooke, A.15
Spickett, G.P.16
Anover-Sombke, S.17
Ochs, H.D.18
Urschel, S.19
Belohradsky, B.H.20
Ugrinovic, S.21
Kumararatne, D.S.22
Lawrence, T.C.23
Holm, A.M.24
Franco, J.L.25
Schulze, I.26
Schneider, P.27
Gertz, E.M.28
Schäffer, A.A.29
Hammarström, L.30
Thrasher, A.J.31
Gaspar, H.B.32
Grimbacher, B.33
more..
-
11
-
-
72849116620
-
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency
-
Mohammadi J., Liu C., Aghamohammadi A., Bergbreiter A., Du L., Lu J., Rezaei N., Amirzargar A.A., Moin M., Salzer U., Pan-Hammarström Q., Hammarström L. Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. J Clin Immunol 2009 Nov, 29(6):777-785.
-
(2009)
J Clin Immunol
, vol.29
, Issue.6
, pp. 777-785
-
-
Mohammadi, J.1
Liu, C.2
Aghamohammadi, A.3
Bergbreiter, A.4
Du, L.5
Lu, J.6
Rezaei, N.7
Amirzargar, A.A.8
Moin, M.9
Salzer, U.10
Pan-Hammarström, Q.11
Hammarström, L.12
-
12
-
-
79955589621
-
The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice
-
Bacchelli C., Buckland K.F., Buckridge S., Salzer U., Schneider P., Thrasher A.J., Gaspar H.B. The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. J Allergy Clin Immunol 2011 May, 127(5):1253-1259.
-
(2011)
J Allergy Clin Immunol
, vol.127
, Issue.5
, pp. 1253-1259
-
-
Bacchelli, C.1
Buckland, K.F.2
Buckridge, S.3
Salzer, U.4
Schneider, P.5
Thrasher, A.J.6
Gaspar, H.B.7
-
13
-
-
78649849505
-
The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency
-
Lee J.J., Jabara H.H., Garibyan L., Rauter I., Sannikova T., Dillon S.R., Bram R., Geha R.S. The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. J Allergy Clin Immunol 2010 Dec, 126(6):1234-1241.
-
(2010)
J Allergy Clin Immunol
, vol.126
, Issue.6
, pp. 1234-1241
-
-
Lee, J.J.1
Jabara, H.H.2
Garibyan, L.3
Rauter, I.4
Sannikova, T.5
Dillon, S.R.6
Bram, R.7
Geha, R.S.8
-
14
-
-
70349561843
-
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function
-
Lee J.J., Rauter I., Garibyan L., Ozcan E., Sannikova T., Dillon S.R., Cruz A.C., Siegel R.M., Bram R., Jabara H., Geha R.S. The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. Blood 2009, 114(11):2254-2262.
-
(2009)
Blood
, vol.114
, Issue.11
, pp. 2254-2262
-
-
Lee, J.J.1
Rauter, I.2
Garibyan, L.3
Ozcan, E.4
Sannikova, T.5
Dillon, S.R.6
Cruz, A.C.7
Siegel, R.M.8
Bram, R.9
Jabara, H.10
Geha, R.S.11
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