-
1
-
-
0036493366
-
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: A new approach to classify a heterogeneous disease
-
Warnatz K, Denz A, Dr.ger R, et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002; 99: 1544-51
-
(2002)
Blood
, vol.99
, pp. 1544-1551
-
-
Warnatz, K.1
Denz Drger A, R.2
-
2
-
-
66749092909
-
Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions
-
Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol 2009; 145: 709-27
-
(2009)
Br J Haematol
, vol.145
, pp. 709-727
-
-
Chapel, H.1
Cunningham-Rundles, C.2
-
3
-
-
84857467014
-
Morbidity and mortality in common variable immune deficiency over 4 decades
-
Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119: 1650-7
-
(2012)
Blood
, vol.119
, pp. 1650-1657
-
-
Resnick, E.S.1
Moshier, E.L.2
Godbold, J.H.3
Cunningham-Rundles, C.4
-
4
-
-
0020038580
-
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
-
Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100: 731-7
-
(1982)
J Pediatr
, vol.100
, pp. 731-737
-
-
Powell, B.R.1
Buist, N.R.2
Stenzel, P.3
-
5
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin RS, Ramsdell F, Peake J, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001; 27: 18-20
-
(2001)
Nat Genet
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
-
6
-
-
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 2006; 116: 1713-22
-
(2006)
J Clin Invest
, vol.116
, pp. 1713-1722
-
-
Bacchetta, R.1
Passerini, L.2
Gambineri, E.3
-
7
-
-
34948875308
-
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells
-
Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007; 120: 744-50
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 744-750
-
-
Torgerson, T.R.1
Ochs, H.D.2
-
8
-
-
70350328995
-
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome
-
dHennezel E, Ben-Shoshan M, Ochs HD, et al. FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. N Engl J Med 2009; 361: 1710-3
-
(2009)
N Engl J Med
, vol.361
, pp. 1710-1713
-
-
Dhennezel, E.1
Ben-Shoshan, M.2
Ochs, H.D.3
-
9
-
-
0038434099
-
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
-
Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 2003; 15: 430-5
-
(2003)
Curr Opin Rheumatol
, vol.15
, pp. 430-435
-
-
Gambineri, E.1
Torgerson, T.R.2
Ochs, H.D.3
-
10
-
-
84882908329
-
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita
-
Allenspach EJ, Bellodi C, Jeong D, et al. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. J Allergy Clin Immunol 2013; 132: 223-6
-
(2013)
J Allergy Clin Immunol
, vol.132
, pp. 223-226
-
-
Allenspach, E.J.1
Bellodi, C.2
Jeong, D.3
-
11
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-79
-
(2000)
Br J Haematol
, vol.110
, pp. 768-779
-
-
Dokal, I.1
-
13
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
Knight SW, Heiss NS, Vulliamy TJ, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999; 107: 335-9
-
(1999)
Br J Haematol
, vol.107
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
14
-
-
11244310960
-
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita
-
Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F. Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood 2005; 105: 682-8
-
(2005)
Blood
, vol.105
, pp. 682-688
-
-
Knudson, M.1
Kulkarni, S.2
Ballas, Z.K.3
Bessler, M.4
Goldman, F.5
-
15
-
-
0031755117
-
Dyskeratosis congenita: Multisystemic disorder with special consideration of immunologic aspects: A review of the literature
-
Slder B, Weiss M, J.ger A, Belohradsky BH. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects: a review of the literature. Clin Pediatr (Phila) 1998; 37: 521-30
-
(1998)
Clin Pediatr (Phila
, vol.37
, pp. 521-530
-
-
Slder, B.1
Weiss, M.2
Ger, A.J.3
Belohradsky, B.H.4
-
16
-
-
0030280182
-
Dyskeratosis congenita: Genetic hematologic-immunologic systemic disease with pancytopenia
-
(In German.)
-
Slder B, Weiss M, J.ger A, Belohradsky BH. Dyskeratosis congenita: genetic hematologic-immunologic systemic disease with pancytopenia. Klin Padiatr 1996; 208: 344-9. (In German.)
-
(1996)
Klin Padiatr
, vol.208
, pp. 344-349
-
-
Slder, B.1
Weiss, M.2
Jger, A.3
Belohradsky, B.H.4
-
17
-
-
84885426952
-
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
-
Alder JK, Parry EM, Yegnasubramanian S, et al. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat 2013; 34: 1481-5
-
(2013)
Hum Mutat
, vol.34
, pp. 1481-1485
-
-
Alder, J.K.1
Parry, E.M.2
Yegnasubramanian, S.3
-
18
-
-
0036435057
-
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
-
Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119: 765-8
-
(2002)
Br J Haematol
, vol.119
, pp. 765-768
-
-
Cossu, F.1
Vulliamy, T.J.2
Marrone, A.3
Badiali, M.4
Cao, A.5
Dokal, I.6
-
19
-
-
10744229510
-
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome
-
Sznajer Y, Baumann C, David A, et al. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 2003; 162: 863-7
-
(2003)
Eur J Pediatr
, vol.162
, pp. 863-867
-
-
Sznajer, Y.1
Baumann, C.2
David, A.3
-
20
-
-
79953325915
-
Dyskeratosis congenita: A combined immunodeficiency with broad clinical spectrum-A single-center pediatric experience
-
Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum-A single-center pediatric experience. Pediatr Allergy Immunol 2011; 22: 313-9
-
(2011)
Pediatr Allergy Immunol
, vol.22
, pp. 313-319
-
-
Jyonouchi, S.1
Forbes, L.2
Ruchelli, E.3
Sullivan, K.E.4
-
21
-
-
0021331420
-
Progressive immune failure in dyskeratosis congenita: Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed
-
Wiedemann HP, McGuire J, Dwyer JM, et al. Progressive immune failure in dyskeratosis congenita: report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed. Arch Intern Med 1984; 144: 397-9
-
(1984)
Arch Intern Med
, vol.144
, pp. 397-399
-
-
Wiedemann, H.P.1
McGuire, J.2
Dwyer, J.M.3
-
22
-
-
0025303034
-
Micronodular transformation (nodular regenerative hyperplasia) of the liver: A report of 64 cases among 2, 500 autopsies and a new classification of benign hepatocellular nodules
-
Wanless IR. Micronodular transformation (nodular regenerative hyperplasia) of the liver: a report of 64 cases among 2, 500 autopsies and a new classification of benign hepatocellular nodules. Hepatology 1990; 11: 787-97
-
(1990)
Hepatology
, vol.11
, pp. 787-797
-
-
Wanless, I.R.1
-
23
-
-
84878014146
-
Nodular regenerative hyperplasia in common variable immunodeficiency
-
Fuss IJ, Friend J, Yang Z, et al. Nodular regenerative hyperplasia in common variable immunodeficiency. J Clin Immunol 2013; 33: 748-58
-
(2013)
J Clin Immunol
, vol.33
, pp. 748-758
-
-
Fuss, I.J.1
Friend, J.2
Yang, Z.3
-
24
-
-
70949087815
-
A spectrum of severe familial liver disorders associate with telomerase mutations
-
Calado RT, Regal JA, Kleiner DE, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One 2009; 4(11): e7926
-
(2009)
PLoS One
, vol.4
, Issue.11
, pp. e7926
-
-
Calado, R.T.1
Regal, J.A.2
Kleiner, D.E.3
-
25
-
-
33748923105
-
Nodular regenerative hyperplasia associated to aplastic anemia: A case report and literature review
-
Gonzlez-Huezo MS, Villela LM, Zepeda-Florencio MdelC, Carrillo-Ponce CS, Mondragn-Snchez RJ. Nodular regenerative hyperplasia associated to aplastic anemia: a case report and literature review. Ann Hepatol 2006; 5: 166-9
-
(2006)
Ann Hepatol
, vol.5
, pp. 166-169
-
-
Gonzlez-Huezo, M.S.1
Villela, L.M.2
Mdelc, Z.3
Carrillo-Ponce, C.S.4
Mondragn-Snchez, R.J.5
-
26
-
-
66049090410
-
Familial idiopathic pulmonary fibrosis in association with bone marrow hypoplasia and hepatic nodular regenerative hyperplasia: A new trimorphic syndrome
-
Talbot-Smith A, Syn WK, MacQuillan G, Neil D, Elias E, Ryan P. Familial idiopathic pulmonary fibrosis in association with bone marrow hypoplasia and hepatic nodular regenerative hyperplasia: a new trimorphic syndrome. Thorax 2009; 64: 440-3
-
(2009)
Thorax
, vol.64
, pp. 440-443
-
-
Talbot-Smith, A.1
Syn, W.K.2
MacQuillan, G.3
Neil, D.4
Elias, E.5
Ryan, P.6
-
27
-
-
0031656541
-
Unusual complications after bone marrow transplantation for dyskeratosis congenita
-
Rocha V, Devergie A, Soci G, et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1998; 103: 243-8
-
(1998)
Br J Haematol
, vol.103
, pp. 243-248
-
-
Rocha, V.1
Devergie, A.2
Soci, G.3
-
28
-
-
67650079362
-
Syndromes of telomere shortening
-
Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet 2009; 10: 45-61
-
(2009)
Annu Rev Genomics Hum Genet
, vol.10
, pp. 45-61
-
-
Armanios, M.1
-
29
-
-
84938086280
-
The short and long telomere syndromes: Paired paradigms for molecular medicine
-
Stanley SE, Armanios M. The short and long telomere syndromes: paired paradigms for molecular medicine. Curr Opin Genet Dev 2015; 33: 1-9
-
(2015)
Curr Opin Genet Dev
, vol.33
, pp. 1-9
-
-
Stanley, S.E.1
Armanios, M.2
-
30
-
-
84878941304
-
The gastrointestinal manifestations of telomeremediated disease
-
Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M. The gastrointestinal manifestations of telomeremediated disease. Aging Cell 2013; 12: 319-23
-
(2013)
Aging Cell
, vol.12
, pp. 319-323
-
-
Jonassaint, N.L.1
Guo, N.2
Califano, J.A.3
Montgomery, E.A.4
Armanios, M.5
-
31
-
-
84961291345
-
Telomerase mutations in smokers with severe emphysema
-
Stanley SE, Chen JJ, Podlevsky JD, et al. Telomerase mutations in smokers with severe emphysema. J Clin Invest 2015; 125: 563-70
-
(2015)
J Clin Invest
, vol.125
, pp. 563-570
-
-
Stanley, S.E.1
Chen, J.J.2
Podlevsky, J.D.3
-
32
-
-
84943381247
-
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders
-
Gorgy AI, Jonassaint NL, Stanley SE, et al. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest 2015; 148: 1019-26
-
(2015)
Chest
, vol.148
, pp. 1019-1026
-
-
Gorgy, A.I.1
Jonassaint, N.L.2
Stanley, S.E.3
-
33
-
-
84903834962
-
Lung transplantation in telomerase mutation carriers with pulmonary fibrosis
-
Silhan LL, Shah PD, Chambers DC, et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. Eur Respir J 2014; 44: 178-87
-
(2014)
Eur Respir J
, vol.44
, pp. 178-187
-
-
Silhan, L.L.1
Shah, P.D.2
Chambers, D.C.3
-
34
-
-
79952500119
-
Short telomeres compromise-cell signaling and survival
-
Guo N, Parry EM, Li LS, et al. Short telomeres compromise-cell signaling and survival. PLoS One 2011; 6(3): e17858
-
(2011)
PLoS One
, vol.6
, Issue.3
, pp. e17858
-
-
Guo, N.1
Parry, E.M.2
Li, L.S.3
-
36
-
-
84874611617
-
Telomeres and age-related disease: How telomere biology informs clinical paradigms
-
Armanios M. Telomeres and age-related disease: how telomere biology informs clinical paradigms. J Clin Invest 2013; 123: 996-1002
-
(2013)
J Clin Invest
, vol.123
, pp. 996-1002
-
-
Armanios, M.1
-
37
-
-
0033362103
-
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
-
Knight SW, Heiss NS, Vulliamy TJ, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 1999; 65: 50-8
-
(1999)
Am J Hum Genet
, vol.65
, pp. 50-58
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
38
-
-
79955526833
-
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
-
Parry EM, Alder JK, Lee SS, et al. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. J Med Genet 2011; 48: 327-33
-
(2011)
J Med Genet
, vol.48
, pp. 327-333
-
-
Parry, E.M.1
Alder, J.K.2
Lee, S.S.3
-
39
-
-
7244234131
-
Androgens and liver tumors: Fanconis anemia and non-Fanconis conditions
-
Velazquez I, Alter BP. Androgens and liver tumors: Fanconis anemia and non-Fanconis conditions. Am J Hematol 2004; 77: 257-67
-
(2004)
Am J Hematol
, vol.77
, pp. 257-267
-
-
Velazquez, I.1
Alter, B.P.2
-
40
-
-
0025776443
-
Normal splenic size in infants and children: Sonographic measurements
-
Rosenberg HKMR, Markowitz RI, Kolberg H, Park C, Hubbard A, Bellah RD. Normal splenic size in infants and children: sonographic measurements. AJR Am J Roentgenol 1991; 157: 119-21
-
(1991)
AJR Am J Roentgenol
, vol.157
, pp. 119-121
-
-
Hkmr, R.1
Markowitz, R.I.2
Kolberg, H.3
Park, C.4
Hubbard, A.5
Bellah, R.D.6
-
41
-
-
0013912854
-
Pooling of platelets in the spleen: Role in the pathogenesis of hypersplenic thrombocytopenia
-
Aster RH. Pooling of platelets in the spleen: role in the pathogenesis of hypersplenic thrombocytopenia. J Clin Invest 1966; 45: 645-57
-
(1966)
J Clin Invest
, vol.45
, pp. 645-657
-
-
Aster, R.H.1
-
42
-
-
77954339095
-
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
-
Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010; 150: 179-88
-
(2011)
Br J Haematol
, vol.150
, pp. 179-188
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
-
43
-
-
84880448795
-
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita
-
Gadalla SM, Sales-Bonfim C, Carreras J, et al. Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transplant 2013; 19: 1238-43
-
(2013)
Biol Blood Marrow Transplant
, vol.19
, pp. 1238-1243
-
-
Gadalla, S.M.1
Sales-Bonfim, C.2
Carreras, J.3
-
44
-
-
84883742527
-
Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure
-
Ayas M, Nassar A, Hamidieh AA, et al. Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure. Bone Marrow Transplant 2013; 48: 1168-72
-
(2013)
Bone Marrow Transplant
, vol.48
, pp. 1168-1172
-
-
Ayas, M.1
Nassar, A.2
Hamidieh, A.A.3
-
45
-
-
84946745547
-
Radiation sensitivity and radiation necrosis in the short telomere syndromes
-
Stanley SE, Rao AD, Gable DL, Mc-Grath-Morrow S, Armanios M. Radiation sensitivity and radiation necrosis in the short telomere syndromes. Int J Radiat Oncol Biol Phys 2015; 93: 1115-7.
-
(2015)
Int J Radiat Oncol Biol Phys
, vol.93
, pp. 1115-1117
-
-
Stanley, S.E.1
Rao, A.D.2
Gable, D.L.3
Mc-Grath-Morrow, S.4
Armanios, M.5
|