-
1
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
Geha, R. S., Notarangelo, L. D., Casanova, J. L., Chapel, H., Conley, M. E., Fischer, A., Hammarstrom, L. et al., Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J. Allergy Clin. Immunol. 2007. 120: 776-794.
-
(2007)
J. Allergy Clin. Immunol
, vol.120
, pp. 776-794
-
-
Geha, R.S.1
Notarangelo, L.D.2
Casanova, J.L.3
Chapel, H.4
Conley, M.E.5
Fischer, A.6
Hammarstrom, L.7
-
2
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
Marodi, L. and Notarangelo, L. D., Immunological and genetic bases of new primary immunodeficiencies. Nat. Rev. Immunol. 2007. 7: 851-861.
-
(2007)
Nat. Rev. Immunol
, vol.7
, pp. 851-861
-
-
Marodi, L.1
Notarangelo, L.D.2
-
3
-
-
0037471003
-
Pyogenic bacterial infections in humans with IRAK-4 deficiency
-
Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, J., Yang, K., Soudais, C. et al., Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 2003. 299: 2076-2079.
-
(2003)
Science
, vol.299
, pp. 2076-2079
-
-
Picard, C.1
Puel, A.2
Bonnet, M.3
Ku, C.L.4
Bustamante, J.5
Yang, K.6
Soudais, C.7
-
4
-
-
33750016788
-
Herpes simplex virus encephalitis in human UNC-93B deficiency
-
Casrouge, A., Zhang, S. Y., Eidenschenk, C., Jouanguy, E., Puel, A., Yang, K., Alcais, A. et al., Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006. 314: 308-312.
-
(2006)
Science
, vol.314
, pp. 308-312
-
-
Casrouge, A.1
Zhang, S.Y.2
Eidenschenk, C.3
Jouanguy, E.4
Puel, A.5
Yang, K.6
Alcais, A.7
-
5
-
-
34548699323
-
TLR3 deficiency in patients with herpes simplex encephalitis
-
Zhang, S. Y., Jouanguy, E., Ugolini, S., Smahi, A., Elain, G., Romero, P., Segal, D. et al., TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007. 317: 1522-1527.
-
(2007)
Science
, vol.317
, pp. 1522-1527
-
-
Zhang, S.Y.1
Jouanguy, E.2
Ugolini, S.3
Smahi, A.4
Elain, G.5
Romero, P.6
Segal, D.7
-
6
-
-
34547732069
-
Primary immunodeficiencies: A field in its infancy
-
Casanova, J. L. and Abel, L., Primary immunodeficiencies: A field in its infancy. Science 2007. 317: 617-619.
-
(2007)
Science
, vol.317
, pp. 617-619
-
-
Casanova, J.L.1
Abel, L.2
-
7
-
-
34250875069
-
BCG-osis and tuberculosis in a child with chronic granulomatous disease
-
Bustamante, J., Aksu, G., Vogt, G., de Beaucoudrey, L., Genel, F., Chapgier, A., Filipe-Santos, O. et al., BCG-osis and tuberculosis in a child with chronic granulomatous disease. J. Allergy Clin. Immunol. 2007. 120: 32-38.
-
(2007)
J. Allergy Clin. Immunol
, vol.120
, pp. 32-38
-
-
Bustamante, J.1
Aksu, G.2
Vogt, G.3
de Beaucoudrey, L.4
Genel, F.5
Chapgier, A.6
Filipe-Santos, O.7
-
8
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud, S., Fondaneche, M. C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L. et al., XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006. 444: 110-114.
-
(2006)
Nature
, vol.444
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.C.2
Lambert, N.3
Pasquier, B.4
Mateo, V.5
Soulas, P.6
Galicier, L.7
-
9
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
Holland, S. M., DeLeo, F. R., Elloumi, H. Z., Hsu, A. P., Uzel, G., Brodsky, N., Freeman, A. F. et al., STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 2007. 357: 1608-1619.
-
(2007)
N. Engl. J. Med
, vol.357
, pp. 1608-1619
-
-
Holland, S.M.1
DeLeo, F.R.2
Elloumi, H.Z.3
Hsu, A.P.4
Uzel, G.5
Brodsky, N.6
Freeman, A.F.7
-
10
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi, Y., Saito, M., Tsuchiya, S., Tsuge, I., Takada, H., Hara, T., Kawamura, N. et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007. 448: 1058-1062.
-
(2007)
Nature
, vol.448
, pp. 1058-1062
-
-
Minegishi, Y.1
Saito, M.2
Tsuchiya, S.3
Tsuge, I.4
Takada, H.5
Hara, T.6
Kawamura, N.7
-
11
-
-
33344456243
-
Omenn syndrome in an infant with IL7RA gene mutation
-
Giliani, S., Bonfim, C., de Saint Basile, G., Lanzi, G., Brousse, N., Koliski, A., Malvezzi, M. et al., Omenn syndrome in an infant with IL7RA gene mutation. J. Pediatr. 2006. 148: 272-274.
-
(2006)
J. Pediatr
, vol.148
, pp. 272-274
-
-
Giliani, S.1
Bonfim, C.2
de Saint Basile, G.3
Lanzi, G.4
Brousse, N.5
Koliski, A.6
Malvezzi, M.7
-
12
-
-
33745835468
-
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
-
Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M. et al., X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J. Exp. Med. 2006. 203: 1745-1759.
-
(2006)
J. Exp. Med
, vol.203
, pp. 1745-1759
-
-
Filipe-Santos, O.1
Bustamante, J.2
Haverkamp, M.H.3
Vinolo, E.4
Ku, C.L.5
Puel, A.6
Frucht, D.M.7
-
13
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
Vogt, G., Chapgier, A., Yang, K., Chuzhanova, N., Feinberg, J., Fieschi, C., Boisson-Dupuis, S. et al., Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat. Genet. 2005. 37: 692-700.
-
(2005)
Nat. Genet
, vol.37
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
Chuzhanova, N.4
Feinberg, J.5
Fieschi, C.6
Boisson-Dupuis, S.7
-
14
-
-
13144254208
-
Genetic analysis of patients with defects in early B-cell development
-
Conley, M. E., Broides, A., Hernandez-Trujillo, V., Howard, V., Kanegane, H., Miyawaki, T. and Shurtleff, S. A., Genetic analysis of patients with defects in early B-cell development. Immunol. Rev. 2005. 203: 216-234.
-
(2005)
Immunol. Rev
, vol.203
, pp. 216-234
-
-
Conley, M.E.1
Broides, A.2
Hernandez-Trujillo, V.3
Howard, V.4
Kanegane, H.5
Miyawaki, T.6
Shurtleff, S.A.7
-
15
-
-
0036792571
-
Clinical and molecular analysis of patients with defects in mu heavy chain gene
-
Lopez Granados, E., Porpiglia, A. S., Hogan, M. B., Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I. et al., Clinical and molecular analysis of patients with defects in mu heavy chain gene. J. Clin. Invest. 2002. 110: 1029-1035.
-
(2002)
J. Clin. Invest
, vol.110
, pp. 1029-1035
-
-
Lopez Granados, E.1
Porpiglia, A.S.2
Hogan, M.B.3
Matamoros, N.4
Krasovec, S.5
Pignata, C.6
Smith, C.I.7
-
16
-
-
34250006519
-
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia
-
Ferrari, S., Zuntini, R., Lougaris, V., Soresina, A., Sourkova, V., Fiorini, M., Martino, S. et al., Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun. 2007. 8: 325-333.
-
(2007)
Genes Immun
, vol.8
, pp. 325-333
-
-
Ferrari, S.1
Zuntini, R.2
Lougaris, V.3
Soresina, A.4
Sourkova, V.5
Fiorini, M.6
Martino, S.7
-
17
-
-
0036053132
-
-
Milili, M., Antunes, H., Blanco-Betancourt, C., Nogueiras, A., Santos, E., Vasconcelos, J., Castro e Melo, J. and Schiff, G., A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur. J. Pediatr. 2002. 161: 479-484.
-
Milili, M., Antunes, H., Blanco-Betancourt, C., Nogueiras, A., Santos, E., Vasconcelos, J., Castro e Melo, J. and Schiff, G., A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur. J. Pediatr. 2002. 161: 479-484.
-
-
-
-
18
-
-
0036308976
-
Lack of IgA in C(mu)-deficient patients
-
Pan, Q., Matamoros, N., Bjorkander, J., Conley, M. E. and Hammarstrom, L., Lack of IgA in C(mu)-deficient patients. Nat. Immunol. 2002. 3: 595.
-
(2002)
Nat. Immunol
, vol.3
, pp. 595
-
-
Pan, Q.1
Matamoros, N.2
Bjorkander, J.3
Conley, M.E.4
Hammarstrom, L.5
-
19
-
-
0032589471
-
Mutations in Igalpha (CD79a) result in a complete block in B-cell development
-
Minegishi, Y., Coustan-Smith, E., Rapalus, L., Ersoy, F., Campana, D. and Conley, M. E., Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J. Clin. Invest. 1999. 104: 1115-1121.
-
(1999)
J. Clin. Invest
, vol.104
, pp. 1115-1121
-
-
Minegishi, Y.1
Coustan-Smith, E.2
Rapalus, L.3
Ersoy, F.4
Campana, D.5
Conley, M.E.6
-
20
-
-
0036525675
-
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia
-
Wang, Y., Kanegane, H., Sanal, O., Tezcan, I., Ersoy, F., Futatani, T. and Miyawaki, T., Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am. J. Med. Genet. 2002. 108: 333-336.
-
(2002)
Am. J. Med. Genet
, vol.108
, pp. 333-336
-
-
Wang, Y.1
Kanegane, H.2
Sanal, O.3
Tezcan, I.4
Ersoy, F.5
Futatani, T.6
Miyawaki, T.7
-
21
-
-
34848840304
-
Cutting edge: A hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development
-
Dobbs, A. K., Yang, T., Farmer, D., Kager, L., Parolini, O. and Conley, M. E., Cutting edge: A hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J. Immunol. 2007. 179: 2055-2059.
-
(2007)
J. Immunol
, vol.179
, pp. 2055-2059
-
-
Dobbs, A.K.1
Yang, T.2
Farmer, D.3
Kager, L.4
Parolini, O.5
Conley, M.E.6
-
22
-
-
34548447567
-
Mutations of the Igbeta gene cause agammaglobulinemia in man
-
Ferrari, S., Lougaris, V., Caraffi, S., Zuntini, R., Yang, J., Soresina, A., Meini, A. et al., Mutations of the Igbeta gene cause agammaglobulinemia in man. J. Exp. Med. 2007. 204: 2047-2051.
-
(2007)
J. Exp. Med
, vol.204
, pp. 2047-2051
-
-
Ferrari, S.1
Lougaris, V.2
Caraffi, S.3
Zuntini, R.4
Yang, J.5
Soresina, A.6
Meini, A.7
-
23
-
-
34047186946
-
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
-
Castigli, E., Wilson, S., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L., Morra, M. et al., Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat. Genet. 2007. 39: 430-431.
-
(2007)
Nat. Genet
, vol.39
, pp. 430-431
-
-
Castigli, E.1
Wilson, S.2
Garibyan, L.3
Rachid, R.4
Bonilla, F.5
Schneider, L.6
Morra, M.7
-
24
-
-
34249058024
-
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
-
Peron, S., Pan-Hammarstrom, Q., Imai, K., Du, L., Taubenheim, N., Sanal, O., Marodi, L. et al., A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J. Exp. Med. 2007. 204: 1207-1216.
-
(2007)
J. Exp. Med
, vol.204
, pp. 1207-1216
-
-
Peron, S.1
Pan-Hammarstrom, Q.2
Imai, K.3
Du, L.4
Taubenheim, N.5
Sanal, O.6
Marodi, L.7
-
25
-
-
0000887667
-
Genetic approach to common variable immunodeficiency and IgA deficiency
-
Ochs, H. D, Smith, C. I. E. and Puck, J. M, Eds, Oxford University Press, Oxford, Pp
-
Hammarstrom, L. and Smith, C. I. E., Genetic approach to common variable immunodeficiency and IgA deficiency. In Ochs, H. D., Smith, C. I. E. and Puck, J. M. (Eds.) Primary immunodeficienc diseases. Oxford University Press, Oxford 2007: Pp 1207-1216.
-
(2007)
Primary immunodeficienc diseases
, pp. 1207-1216
-
-
Hammarstrom, L.1
Smith, C.I.E.2
-
26
-
-
0037340349
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
-
Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E., Warnatz, K., Drager, R., Eibel, H. et al., Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 2003. 4: 261-268.
-
(2003)
Nat. Immunol
, vol.4
, pp. 261-268
-
-
Grimbacher, B.1
Hutloff, A.2
Schlesier, M.3
Glocker, E.4
Warnatz, K.5
Drager, R.6
Eibel, H.7
-
27
-
-
23044463627
-
TACI is mutant in common variable immunodeficiency and IgA deficiency
-
Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L. and Geha, R. S., TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat. Genet. 2005. 37: 829-834.
-
(2005)
Nat. Genet
, vol.37
, 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
-
28
-
-
23044443492
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
-
Salzer, U., Chapel, H. M., Webster, A. D., Pan-Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter, H. H. et al., Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 2005. 37: 820-828.
-
(2005)
Nat. Genet
, vol.37
, pp. 820-828
-
-
Salzer, U.1
Chapel, H.M.2
Webster, A.D.3
Pan-Hammarstrom, Q.4
Schmitt-Graeff, A.5
Schlesier, M.6
Peter, H.H.7
-
29
-
-
34047107195
-
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
-
Pan-Hammarstrom, Q., Salzer, U., Du, L., Bjorkander, J., Cunningham-Rundles, C., Nelson, D. L., Bacchelli, C. et al., Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat. Genet. 2007. 39: 429-430.
-
(2007)
Nat. Genet
, vol.39
, pp. 429-430
-
-
Pan-Hammarstrom, Q.1
Salzer, U.2
Du, L.3
Bjorkander, J.4
Cunningham-Rundles, C.5
Nelson, D.L.6
Bacchelli, C.7
-
30
-
-
34249909831
-
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)
-
Garibyan, L., Lobito, A. A., Siegel, R. M., Call, M. E., Wucherpfennig, K. W. and Geha, R. S., Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J. Clin. Invest. 2007. 117: 1550-1557.
-
(2007)
J. Clin. Invest
, vol.117
, pp. 1550-1557
-
-
Garibyan, L.1
Lobito, A.A.2
Siegel, R.M.3
Call, M.E.4
Wucherpfennig, K.W.5
Geha, R.S.6
-
31
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
van Zelm, M. C., Reisli, I., van der Burg, M., Castano, D., van Noesel, C. J., van Tol, M. J., Woellner, C. et al., An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 2006. 354: 1901-1912.
-
(2006)
N. Engl. J. Med
, vol.354
, pp. 1901-1912
-
-
van Zelm, M.C.1
Reisli, I.2
van der Burg, M.3
Castano, D.4
van Noesel, C.J.5
van Tol, M.J.6
Woellner, C.7
-
32
-
-
34249824905
-
Deconstructing common variable immunodeficiency by genetic analysis
-
Schaffer, A. A., Salzer, U., Hammarstrom, L. and Grimbacher, B., Deconstructing common variable immunodeficiency by genetic analysis. Curr. Opin. Genet. Dev. 2007. 17: 201-212.
-
(2007)
Curr. Opin. Genet. Dev
, vol.17
, pp. 201-212
-
-
Schaffer, A.A.1
Salzer, U.2
Hammarstrom, L.3
Grimbacher, B.4
-
33
-
-
34249850294
-
Role for MSH5 in the regulation of Ig class switch recombination
-
Sekine, H., Ferreira, R. C., Pan-Hammarstrom, Q., Graham, R. R., Ziemba, B., de Vries, S. S., Liu, J. et al., Role for MSH5 in the regulation of Ig class switch recombination. Proc. Natl. Acad. Sci. USA 2007. 104: 7193-7198.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 7193-7198
-
-
Sekine, H.1
Ferreira, R.C.2
Pan-Hammarstrom, Q.3
Graham, R.R.4
Ziemba, B.5
de Vries, S.S.6
Liu, J.7
-
34
-
-
33748030780
-
Immunodeficiencies with autoimmune consequences
-
Notarangelo, L. D., Gambineri, E. and Badolato, R., Immunodeficiencies with autoimmune consequences. Adv. Immunol. 2006. 89: 321-370.
-
(2006)
Adv. Immunol
, vol.89
, pp. 321-370
-
-
Notarangelo, L.D.1
Gambineri, E.2
Badolato, R.3
-
35
-
-
33646368404
-
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
-
Graham, R. R., Kozyrev, S. V., Baechler, E. C., Reddy, M. V., Plenge, R. M., Bauer, J. W., Ortmann, W. A. et al., A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat. Genet. 2006. 38: 550-555.
-
(2006)
Nat. Genet
, vol.38
, pp. 550-555
-
-
Graham, R.R.1
Kozyrev, S.V.2
Baechler, E.C.3
Reddy, M.V.4
Plenge, R.M.5
Bauer, J.W.6
Ortmann, W.A.7
-
36
-
-
3543046736
-
A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes
-
Guo, D., Li, M., Zhang, Y., Yang, P., Eckenrode, S., Hopkins, D., Zheng, W. et al., A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat. Genet. 2004. 36: 837-841.
-
(2004)
Nat. Genet
, vol.36
, pp. 837-841
-
-
Guo, D.1
Li, M.2
Zhang, Y.3
Yang, P.4
Eckenrode, S.5
Hopkins, D.6
Zheng, W.7
-
37
-
-
33645652261
-
A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
-
Nunez, C., Lopez-Mejias, R., Martinez, A., Garcia-Rodriguez, M. C., Fernandez-Arquero, M., de la Concha, E. G. and Urcelay, E., A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population. BMC Med. Genet. 2006. 7: 25.
-
(2006)
BMC Med. Genet
, vol.7
, pp. 25
-
-
Nunez, C.1
Lopez-Mejias, R.2
Martinez, A.3
Garcia-Rodriguez, M.C.4
Fernandez-Arquero, M.5
de la Concha, E.G.6
Urcelay, E.7
-
38
-
-
20944445879
-
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction
-
Swanberg, M., Lidman, O., Padyukov, L., Eriksson, P., Akesson, E., Jagodic, M., Lobell, A. et al., MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat. Genet. 2005. 37: 486-494.
-
(2005)
Nat. Genet
, vol.37
, pp. 486-494
-
-
Swanberg, M.1
Lidman, O.2
Padyukov, L.3
Eriksson, P.4
Akesson, E.5
Jagodic, M.6
Lobell, A.7
-
39
-
-
33846928540
-
CTLA-4 gene exon-1 +49 A/G polymorphism: Lack of association with autoimmune disease in patients with common variable immune deficiency
-
Knight, A. K., Serrano, D., Tomer, Y. and Cunningham-Rundles, C., CTLA-4 gene exon-1 +49 A/G polymorphism: Lack of association with autoimmune disease in patients with common variable immune deficiency. J. Clin. Immunol. 2007. 27: 95-100.
-
(2007)
J. Clin. Immunol
, vol.27
, pp. 95-100
-
-
Knight, A.K.1
Serrano, D.2
Tomer, Y.3
Cunningham-Rundles, C.4
-
40
-
-
33745931645
-
Mutational analysis of human BLyS in patients with common variable immunodeficiency
-
Losi, C. G., Salzer, U., Gatta, R., Lougaris, V., Cattaneo, G., Meini, A., Soresina, A. et al., Mutational analysis of human BLyS in patients with common variable immunodeficiency. J. Clin. Immunol. 2006. 26: 396-399.
-
(2006)
J. Clin. Immunol
, vol.26
, pp. 396-399
-
-
Losi, C.G.1
Salzer, U.2
Gatta, R.3
Lougaris, V.4
Cattaneo, G.5
Meini, A.6
Soresina, A.7
-
41
-
-
24744471433
-
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency
-
Losi, C. G., Silini, A., Fiorini, C., Soresina, A., Meini, A., Ferrari, S., Notarangelo, L. D. et al., Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J. Clin. Immunol. 2005. 25: 496-502.
-
(2005)
J. Clin. Immunol
, vol.25
, pp. 496-502
-
-
Losi, C.G.1
Silini, A.2
Fiorini, C.3
Soresina, A.4
Meini, A.5
Ferrari, S.6
Notarangelo, L.D.7
-
42
-
-
0345039852
-
Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?
-
Vorechovsky, I., Kralovicova, J., Tchilian, E., Masterman, T., Zhang, Z., Ferry, B., Misbah, S. et al., Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nat. Genet. 2001. 29: 22-23.
-
(2001)
Nat. Genet
, vol.29
, pp. 22-23
-
-
Vorechovsky, I.1
Kralovicova, J.2
Tchilian, E.3
Masterman, T.4
Zhang, Z.5
Ferry, B.6
Misbah, S.7
-
43
-
-
1642332951
-
Impaired IgA class switching in APRIL-deficient mice
-
Castigli, E., Scott, S., Dedeoglu, F., Bryce, P., Jabara, H., Bhan, A. K., Mizoguchi, E. and Geha, R. S., Impaired IgA class switching in APRIL-deficient mice. Proc. Natl. Acad. Sci. USA 2004. 101: 3903-3908.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 3903-3908
-
-
Castigli, E.1
Scott, S.2
Dedeoglu, F.3
Bryce, P.4
Jabara, H.5
Bhan, A.K.6
Mizoguchi, E.7
Geha, R.S.8
-
44
-
-
27944441929
-
Finally found: Human BAFF-R deficiency causes CVID.In
-
Versailles, Abstract B
-
Warnatz, K., Salzer, U., Gutenberger, S., Taubenheim, N., Theil, K., Schlesier, M., Grimbacher, B. et al., Finally found: Human BAFF-R deficiency causes CVID.In XIth Meeting of the European Society for Immunodeficiencies. Versailles 2004, Abstract B.72.
-
XIth Meeting of the European Society for Immunodeficiencies
, vol.2004
, pp. 72
-
-
Warnatz, K.1
Salzer, U.2
Gutenberger, S.3
Taubenheim, N.4
Theil, K.5
Schlesier, M.6
Grimbacher, B.7
-
45
-
-
33750882946
-
Unusual case presentations associated with the CD45 C77G polymorphism
-
Tchilian, E. Z., Gil, J., Navarro, M. L., Fernandez-Cruz, E., Chapel, H., Misbah, S., Ferry, B. et al., Unusual case presentations associated with the CD45 C77G polymorphism. Clin. Exp. Immunol. 2006. 146: 448-454.
-
(2006)
Clin. Exp. Immunol
, vol.146
, pp. 448-454
-
-
Tchilian, E.Z.1
Gil, J.2
Navarro, M.L.3
Fernandez-Cruz, E.4
Chapel, H.5
Misbah, S.6
Ferry, B.7
-
46
-
-
34347236941
-
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides
-
Du, L., Pollard, J. M. and Gatti, R. A., Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc. Natl. Acad. Sci. USA 2007. 104: 6007-6012.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 6007-6012
-
-
Du, L.1
Pollard, J.M.2
Gatti, R.A.3
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