-
1
-
-
0020038580
-
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
-
Powell B.R., Buist N.R., and Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100 (1982) 731-737
-
(1982)
J Pediatr
, vol.100
, pp. 731-737
-
-
Powell, B.R.1
Buist, N.R.2
Stenzel, P.3
-
2
-
-
0026178213
-
X-linked lymphoreticular disease in the scurfy (sf) mutant mouse
-
Godfrey V., Wilkinson J., and Russell L. X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. Am J Pathol 138 (1991) 1379-1387
-
(1991)
Am J Pathol
, vol.138
, pp. 1379-1387
-
-
Godfrey, V.1
Wilkinson, J.2
Russell, L.3
-
3
-
-
0031939403
-
CD4+CD25+ T cells inhibit both the induction and effector function of autoreactive T cells and represent a unique lineage of immunoregulatory cells
-
Suri-Payer E., Amar A.Z., Thornton A.M., et al. CD4+CD25+ T cells inhibit both the induction and effector function of autoreactive T cells and represent a unique lineage of immunoregulatory cells. J Immunol 160 (1998) 1212-1218
-
(1998)
J Immunol
, vol.160
, pp. 1212-1218
-
-
Suri-Payer, E.1
Amar, A.Z.2
Thornton, A.M.3
-
4
-
-
0023858264
-
Do suppressor T cells exist?
-
Moller G. Do suppressor T cells exist?. Scand J Immunol 27 (1988) 247-250
-
(1988)
Scand J Immunol
, vol.27
, pp. 247-250
-
-
Moller, G.1
-
5
-
-
0028046505
-
Familial autoimmune enteropathy with circulating anti-bullous pemphigoid antibodies and chronic autoimmune hepatitis
-
Lachaux A., Bouvier R., Cozzani E., et al. Familial autoimmune enteropathy with circulating anti-bullous pemphigoid antibodies and chronic autoimmune hepatitis. J Pediatr 125 (1994) 858-862
-
(1994)
J Pediatr
, vol.125
, pp. 858-862
-
-
Lachaux, A.1
Bouvier, R.2
Cozzani, E.3
-
6
-
-
0025317650
-
The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome
-
Lyon M.F., Peters J., Glenister P.H., et al. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci USA 87 (1990) 2433-2437
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2433-2437
-
-
Lyon, M.F.1
Peters, J.2
Glenister, P.H.3
-
7
-
-
0033928382
-
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3
-
Bennett C.L., Yoshioka R., Kiyosawa H., et al. X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. Am J Hum Genet 66 (2000) 461-468
-
(2000)
Am J Hum Genet
, vol.66
, pp. 461-468
-
-
Bennett, C.L.1
Yoshioka, R.2
Kiyosawa, H.3
-
8
-
-
0034723729
-
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
-
Ferguson P.J., Blanton S.H., Saulsbury F.T., et al. Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Am J Med Genet 90 (2000) 390-397
-
(2000)
Am J Med Genet
, vol.90
, pp. 390-397
-
-
Ferguson, P.J.1
Blanton, S.H.2
Saulsbury, F.T.3
-
9
-
-
0035162560
-
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
-
Brunkow M.E., Jeffery E.W., Hjerrild K.A., et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 27 (2001) 68-73
-
(2001)
Nat Genet
, vol.27
, pp. 68-73
-
-
Brunkow, M.E.1
Jeffery, E.W.2
Hjerrild, K.A.3
-
10
-
-
0035167967
-
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (Ipex) is caused by mutations of FOXP3
-
Bennett C.L., Christie J., Ramsdell F., et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (Ipex) is caused by mutations of FOXP3. Nat Genet 27 (2001) 20-21
-
(2001)
Nat Genet
, vol.27
, pp. 20-21
-
-
Bennett, C.L.1
Christie, J.2
Ramsdell, F.3
-
11
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin R.S., Ramsdell F., Peake J., et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 27 (2001) 18-20
-
(2001)
Nat Genet
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
-
12
-
-
0034526617
-
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
-
Chatila T.A., Blaeser F., Ho N., et al. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 106 (2000) R75-R81
-
(2000)
J Clin Invest
, vol.106
-
-
Chatila, T.A.1
Blaeser, F.2
Ho, N.3
-
13
-
-
33646255425
-
Foxp3 represses retroviral transcription by targeting both NF-&kacute;B and CREB pathways
-
Grant C., Oh U., Fugo K., et al. Foxp3 represses retroviral transcription by targeting both NF-&kacute;B and CREB pathways. PLoS Pathog 2 (2006) e33
-
(2006)
PLoS Pathog
, vol.2
-
-
Grant, C.1
Oh, U.2
Fugo, K.3
-
14
-
-
0035576221
-
The amount of scurfin protein determines peripheral T cell number and responsiveness
-
Khattri R., Kasprowicz D., Cox T., et al. The amount of scurfin protein determines peripheral T cell number and responsiveness. J Immunol 167 (2001) 6312-6320
-
(2001)
J Immunol
, vol.167
, pp. 6312-6320
-
-
Khattri, R.1
Kasprowicz, D.2
Cox, T.3
-
15
-
-
0035813231
-
Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation
-
Schubert L.A., Jeffery E., Zhang Y., et al. Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation. J Biol Chem 276 (2001) 37672-37679
-
(2001)
J Biol Chem
, vol.276
, pp. 37672-37679
-
-
Schubert, L.A.1
Jeffery, E.2
Zhang, Y.3
-
16
-
-
33747762947
-
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor
-
Lopes J.E., Torgerson T.R., Schubert L.A., et al. Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol 177 (2006) 3133-3142
-
(2006)
J Immunol
, vol.177
, pp. 3133-3142
-
-
Lopes, J.E.1
Torgerson, T.R.2
Schubert, L.A.3
-
17
-
-
27644433355
-
Role of regulatory T cells in human diseases
-
quiz 60
-
Chatila T.A. Role of regulatory T cells in human diseases. J Allergy Clin Immunol 116 (2005) 949-959 quiz 60
-
(2005)
J Allergy Clin Immunol
, vol.116
, pp. 949-959
-
-
Chatila, T.A.1
-
18
-
-
33646129676
-
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome
-
De Benedetti F., Insalaco A., Diamanti A., et al. Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. Clin Gastroenterol Hepatol 4 (2006) 653-659
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, pp. 653-659
-
-
De Benedetti, F.1
Insalaco, A.2
Diamanti, A.3
-
19
-
-
0034812349
-
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the Ipex syndrome
-
Bennett C.L., Brunkow M.E., Ramsdell F., et al. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the Ipex syndrome. Immunogenetics 53 (2001) 435-439
-
(2001)
Immunogenetics
, vol.53
, pp. 435-439
-
-
Bennett, C.L.1
Brunkow, M.E.2
Ramsdell, F.3
-
20
-
-
1542376206
-
Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors
-
Banerjee-Basu S., and Baxevanis A.D. Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors. Proteins 54 (2004) 639-647
-
(2004)
Proteins
, vol.54
, pp. 639-647
-
-
Banerjee-Basu, S.1
Baxevanis, A.D.2
-
21
-
-
0026043866
-
Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: potential model for thymic education
-
Godfrey V.L., Wilkinson J.E., Rinchik E.M., et al. Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: potential model for thymic education. Proc Natl Acad Sci USA 88 (1991) 5528-5532
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 5528-5532
-
-
Godfrey, V.L.1
Wilkinson, J.E.2
Rinchik, E.M.3
-
22
-
-
0028171297
-
CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse
-
Blair P.J., Bultman S.J., Haas J.C., et al. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol 153 (1994) 3764-3774
-
(1994)
J Immunol
, vol.153
, pp. 3764-3774
-
-
Blair, P.J.1
Bultman, S.J.2
Haas, J.C.3
-
23
-
-
0030069074
-
Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes
-
Kanangat S., Blair P., Reddy R., et al. Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes. Eur J Immunol 26 (1996) 161-165
-
(1996)
Eur J Immunol
, vol.26
, pp. 161-165
-
-
Kanangat, S.1
Blair, P.2
Reddy, R.3
-
24
-
-
0033105648
-
Cellular and molecular characterization of the scurfy mouse mutant
-
Clark L.B., Appleby M.W., Brunkow M.E., et al. Cellular and molecular characterization of the scurfy mouse mutant. J Immunol 162 (1999) 2546-2554
-
(1999)
J Immunol
, vol.162
, pp. 2546-2554
-
-
Clark, L.B.1
Appleby, M.W.2
Brunkow, M.E.3
-
25
-
-
0031647622
-
Immunologic self-tolerance maintained by CD25+CD4+ naturally anergic and suppressive T cells: induction of autoimmune disease by breaking their anergic/suppressive state
-
10.1093/intimm/10.12.1969
-
Takahashi T., Kuniyasu Y., Toda M., et al. Immunologic self-tolerance maintained by CD25+CD4+ naturally anergic and suppressive T cells: induction of autoimmune disease by breaking their anergic/suppressive state. Int Immunol 10 (1998) 1969-1980 10.1093/intimm/10.12.1969
-
(1998)
Int Immunol
, vol.10
, pp. 1969-1980
-
-
Takahashi, T.1
Kuniyasu, Y.2
Toda, M.3
-
26
-
-
0029150110
-
Immunologic self-tolerance maintained by activated T cells expressing IL-2 receptor alpha-chains (CD25). Breakdown of a single mechanism of self-tolerance causes various autoimmune diseases
-
Sakaguchi S., Sakaguchi N., Asano M., et al. Immunologic self-tolerance maintained by activated T cells expressing IL-2 receptor alpha-chains (CD25). Breakdown of a single mechanism of self-tolerance causes various autoimmune diseases. J Immunol 155 (1995) 1151-1164
-
(1995)
J Immunol
, vol.155
, pp. 1151-1164
-
-
Sakaguchi, S.1
Sakaguchi, N.2
Asano, M.3
-
27
-
-
0347785480
-
Control of regulatory T cell development by the transcription factor Foxp3
-
Hori S., Nomura T., and Sakaguchi S. Control of regulatory T cell development by the transcription factor Foxp3. Science 299 (2003) 1057-1061
-
(2003)
Science
, vol.299
, pp. 1057-1061
-
-
Hori, S.1
Nomura, T.2
Sakaguchi, S.3
-
28
-
-
33745211931
-
Defective regulatory and effector T cell functions in patients with FOXP3 mutations
-
Bacchetta R., Passerini L., Gambineri E., et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 116 (2006) 1713-1722
-
(2006)
J Clin Invest
, vol.116
, pp. 1713-1722
-
-
Bacchetta, R.1
Passerini, L.2
Gambineri, E.3
-
29
-
-
34748915728
-
Medium-term survival without haematopoietic stem cell transplantation in a case of Ipex: insights into nutritional and immunosuppressive therapy
-
Taddio A., Faleschini E., Valencic E., et al. Medium-term survival without haematopoietic stem cell transplantation in a case of Ipex: insights into nutritional and immunosuppressive therapy. Eur J Pediatr (2007)
-
(2007)
Eur J Pediatr
-
-
Taddio, A.1
Faleschini, E.2
Valencic, E.3
-
30
-
-
33646240855
-
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
-
Gavin M.A., Torgerson T.R., Houston E., et al. Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci USA 103 (2006) 6659-6664
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 6659-6664
-
-
Gavin, M.A.1
Torgerson, T.R.2
Houston, E.3
-
31
-
-
15244354286
-
Regulatory T cell lineage specification by the forkhead transcription factor foxp3
-
Fontenot J.D., Rasmussen J.P., Williams L.M., et al. Regulatory T cell lineage specification by the forkhead transcription factor foxp3. Immunity 22 (2005) 329-341
-
(2005)
Immunity
, vol.22
, pp. 329-341
-
-
Fontenot, J.D.1
Rasmussen, J.P.2
Williams, L.M.3
-
32
-
-
0346969978
-
Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25- T cells
-
10.1172/JCI200319441
-
R.Walker M., Kasprowicz D.J., Gersuk V.H., et al. Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25- T cells. J Clin Invest 112 (2003) 1437-1443 10.1172/JCI200319441
-
(2003)
J Clin Invest
, vol.112
, pp. 1437-1443
-
-
R.Walker, M.1
Kasprowicz, D.J.2
Gersuk, V.H.3
-
33
-
-
22144479379
-
Oral tolerance in the absence of naturally occurring Tregs
-
Mucida D., Kutchukhidze N., Erazo A., et al. Oral tolerance in the absence of naturally occurring Tregs. J Clin Invest 115 (2005) 1923-1933
-
(2005)
J Clin Invest
, vol.115
, pp. 1923-1933
-
-
Mucida, D.1
Kutchukhidze, N.2
Erazo, A.3
-
35
-
-
33846805925
-
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes
-
Caudy A.A., Reddy S.T., Chatila T., et al. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119 (2007) 482-487
-
(2007)
J Allergy Clin Immunol
, vol.119
, pp. 482-487
-
-
Caudy, A.A.1
Reddy, S.T.2
Chatila, T.3
-
36
-
-
21844461308
-
Long-term parenteral nutrition in pediatric autoimmune enteropathies
-
Gambarara M., Bracci F., Diamanti A., et al. Long-term parenteral nutrition in pediatric autoimmune enteropathies. Transplant Proc 37 (2005) 2270-2271
-
(2005)
Transplant Proc
, vol.37
, pp. 2270-2271
-
-
Gambarara, M.1
Bracci, F.2
Diamanti, A.3
-
37
-
-
1342337204
-
Neonatal enteropathies: defining the causes of protracted diarrhea of infancy
-
Sherman P.M., Mitchell D.J., and Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38 (2004) 16-26
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 16-26
-
-
Sherman, P.M.1
Mitchell, D.J.2
Cutz, E.3
-
38
-
-
0029055709
-
Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy
-
Kobayashi I., Nakanishi M., Okano M., et al. Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy. Eur J Pediatr 154 (1995) 594-595
-
(1995)
Eur J Pediatr
, vol.154
, pp. 594-595
-
-
Kobayashi, I.1
Nakanishi, M.2
Okano, M.3
-
39
-
-
0029791833
-
X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea
-
Di Rocco M., and Marta R. X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 75 (1996) F144
-
(1996)
Arch Dis Child Fetal Neonatal Ed
, vol.75
-
-
Di Rocco, M.1
Marta, R.2
-
40
-
-
23944510233
-
Successful use of the new immune-suppressor sirolimus in Ipex (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)
-
Bindl L., Torgerson T., Perroni L., et al. Successful use of the new immune-suppressor sirolimus in Ipex (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 147 (2005) 256-259
-
(2005)
J Pediatr
, vol.147
, pp. 256-259
-
-
Bindl, L.1
Torgerson, T.2
Perroni, L.3
-
41
-
-
31544482746
-
Rapamycin, and not cyclosporin A, preserves the highly suppressive CD27+ subset of human CD4+CD25+ regulatory T cells
-
Coenen J.J., Koenen H.J., van Rijssen E., et al. Rapamycin, and not cyclosporin A, preserves the highly suppressive CD27+ subset of human CD4+CD25+ regulatory T cells. Blood 107 (2006) 1018-1023
-
(2006)
Blood
, vol.107
, pp. 1018-1023
-
-
Coenen, J.J.1
Koenen, H.J.2
van Rijssen, E.3
-
42
-
-
20444373376
-
Rapamycin selectively expands CD4+CD25+FoxP3+ regulatory T cells
-
Battaglia M., Stabilini A., and Roncarolo MG. Rapamycin selectively expands CD4+CD25+FoxP3+ regulatory T cells. Blood 105 (2005) 4743-4748
-
(2005)
Blood
, vol.105
, pp. 4743-4748
-
-
Battaglia, M.1
Stabilini, A.2
Roncarolo MG3
-
43
-
-
27744534927
-
Low-dose cyclosporine A in a patient with X- linked immune dysregulation, polyendocrinopathy and enteropathy
-
Tanaka H., Tsugawa K., Kudo M., et al. Low-dose cyclosporine A in a patient with X- linked immune dysregulation, polyendocrinopathy and enteropathy. Eur J Pediatr 164 (2005) 779-780
-
(2005)
Eur J Pediatr
, vol.164
, pp. 779-780
-
-
Tanaka, H.1
Tsugawa, K.2
Kudo, M.3
-
44
-
-
0035821985
-
Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (Ipex) by allogeneic bone marrow transplantation
-
Baud O., Goulet O., Canioni D., et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (Ipex) by allogeneic bone marrow transplantation. N Engl J Med 344 (2001) 1758-1762
-
(2001)
N Engl J Med
, vol.344
, pp. 1758-1762
-
-
Baud, O.1
Goulet, O.2
Canioni, D.3
-
45
-
-
33846008735
-
Emerging targets for hematopoietic cell transplantation (HCT): genetic disorders of hematopoiesis and immunity
-
Filipovich A.H., Bleesing J., and Goldman F. Emerging targets for hematopoietic cell transplantation (HCT): genetic disorders of hematopoiesis and immunity. Biol Blood Marrow Transplant 13 (2006) 58-63
-
(2006)
Biol Blood Marrow Transplant
, vol.13
, pp. 58-63
-
-
Filipovich, A.H.1
Bleesing, J.2
Goldman, F.3
-
46
-
-
38349178790
-
Successful bone marrow transplantation for Ipex syndrome following reduced intensity conditioning
-
Rao A., Kamani N., Filipovich A., et al. Successful bone marrow transplantation for Ipex syndrome following reduced intensity conditioning. Blood (2006)
-
(2006)
Blood
-
-
Rao, A.1
Kamani, N.2
Filipovich, A.3
-
47
-
-
19944392296
-
Reduced-intensity allogeneic stem cell transplantation in adults and children with malignant and nonmalignant diseases: end of the beginning and future challenges
-
Satwani P., Harrison L., Morris E., et al. Reduced-intensity allogeneic stem cell transplantation in adults and children with malignant and nonmalignant diseases: end of the beginning and future challenges. Biol Blood Marrow Transplant 11 (2005) 403-422
-
(2005)
Biol Blood Marrow Transplant
, vol.11
, pp. 403-422
-
-
Satwani, P.1
Harrison, L.2
Morris, E.3
-
48
-
-
0036379775
-
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
-
Tommasini A., Ferrari S., Moratto D., et al. X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol 130 (2002) 127-130
-
(2002)
Clin Exp Immunol
, vol.130
, pp. 127-130
-
-
Tommasini, A.1
Ferrari, S.2
Moratto, D.3
-
49
-
-
0043246615
-
Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes
-
Smyk-Pearson S.K., Bakke A.C., Held P.K., et al. Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes. Clin Exp Immunol 133 (2003) 193-199
-
(2003)
Clin Exp Immunol
, vol.133
, pp. 193-199
-
-
Smyk-Pearson, S.K.1
Bakke, A.C.2
Held, P.K.3
|