-
1
-
-
7844250226
-
Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology
-
Evans RS, Takahashi K, Duane RT, Payne R, Liu C. Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology. AMA Arch Intern Med 1951, 87:48-65.
-
(1951)
AMA Arch Intern Med
, vol.87
, pp. 48-65
-
-
Evans, R.S.1
Takahashi, K.2
Duane, R.T.3
Payne, R.4
Liu, C.5
-
2
-
-
0023881844
-
Occurrence of both hemolytic anemia and thrombocytopenic purpura (Evans' syndrome) in systemic lupus erythematosus. Relationship to antiphospholipid antibodies
-
Deleze M, Oria CV, Alarcon-Segovia D. Occurrence of both hemolytic anemia and thrombocytopenic purpura (Evans' syndrome) in systemic lupus erythematosus. Relationship to antiphospholipid antibodies. J Rheumatol 1988, 15:611-615.
-
(1988)
J Rheumatol
, vol.15
, pp. 611-615
-
-
Deleze, M.1
Oria, C.V.2
Alarcon-Segovia, D.3
-
3
-
-
58149089515
-
Splenic marginal zone lymphoma with Evans' syndrome, autoimmunity, and peripheral gamma/delta T cells
-
10.1007/s00277-008-0555-z, 18665362
-
Garcia-Munoz R, Rodriguez-Otero P, Pegenaute C, Merino J, Jakes-Okampo J, Llorente L, Bendandi M, Panizo C. Splenic marginal zone lymphoma with Evans' syndrome, autoimmunity, and peripheral gamma/delta T cells. Ann Hematol 2009, 88:177-178. 10.1007/s00277-008-0555-z, 18665362.
-
(2009)
Ann Hematol
, vol.88
, pp. 177-178
-
-
Garcia-Munoz, R.1
Rodriguez-Otero, P.2
Pegenaute, C.3
Merino, J.4
Jakes-Okampo, J.5
Llorente, L.6
Bendandi, M.7
Panizo, C.8
-
4
-
-
40849136681
-
Autoimmune thrombocytopenia in non-Hodgkin's lymphomas
-
10.3324/haematol.11934, 18287133
-
Hauswirth AW, Skrabs C, Schutzinger C, Raderer M, Chott A, Valent P, Lechner K, Jager U. Autoimmune thrombocytopenia in non-Hodgkin's lymphomas. Haematologica 2008, 93:447-450. 10.3324/haematol.11934, 18287133.
-
(2008)
Haematologica
, vol.93
, pp. 447-450
-
-
Hauswirth, A.W.1
Skrabs, C.2
Schutzinger, C.3
Raderer, M.4
Chott, A.5
Valent, P.6
Lechner, K.7
Jager, U.8
-
5
-
-
3242697783
-
Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature
-
Michel M, Chanet V, Galicier L, Ruivard M, Levy Y, Hermine O, Oksenhendler E, Schaeffer A, Bierling P, Godeau B. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004, 83:254-263.
-
(2004)
Medicine (Baltimore)
, vol.83
, pp. 254-263
-
-
Michel, M.1
Chanet, V.2
Galicier, L.3
Ruivard, M.4
Levy, Y.5
Hermine, O.6
Oksenhendler, E.7
Schaeffer, A.8
Bierling, P.9
Godeau, B.10
-
6
-
-
34548491824
-
Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies
-
Carneiro-Sampaio M, Coutinho A. Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. Adv Immunol 2007, 95:51-82.
-
(2007)
Adv Immunol
, vol.95
, pp. 51-82
-
-
Carneiro-Sampaio, M.1
Coutinho, A.2
-
7
-
-
56349102675
-
Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men
-
10.1016/j.coi.2008.10.004, 2605935, 18955138
-
Westerberg LS, Klein C, Snapper SB. Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men. Curr Opin Immunol 2008, 20:646-654. 10.1016/j.coi.2008.10.004, 2605935, 18955138.
-
(2008)
Curr Opin Immunol
, vol.20
, pp. 646-654
-
-
Westerberg, L.S.1
Klein, C.2
Snapper, S.B.3
-
8
-
-
68949148856
-
Autoimmunity in common variable immunodeficiency
-
10.1007/s11882-009-0051-0, 2919211, 19671377
-
Agarwal S, Cunningham-Rundles C. Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep 2009, 9:347-352. 10.1007/s11882-009-0051-0, 2919211, 19671377.
-
(2009)
Curr Allergy Asthma Rep
, vol.9
, pp. 347-352
-
-
Agarwal, S.1
Cunningham-Rundles, C.2
-
9
-
-
44449177491
-
Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease
-
Coutinho A, Carneiro-Sampaio M. Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease. J Clin Immunol 2008, 28(Suppl 1):S4-10.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
-
-
Coutinho, A.1
Carneiro-Sampaio, M.2
-
10
-
-
48649086968
-
Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases
-
10.1007/s12016-007-8038-x, 18330725
-
Lehman HK, Ballow M. Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases. Clin Rev Allergy Immunol 2008, 34:141-145. 10.1007/s12016-007-8038-x, 18330725.
-
(2008)
Clin Rev Allergy Immunol
, vol.34
, pp. 141-145
-
-
Lehman, H.K.1
Ballow, M.2
-
11
-
-
42049096507
-
Immune dysregulation in primary immunodeficiency disorders
-
viii-ix, 10.1016/j.iac.2008.02.002, 18424335
-
Torgerson TR. Immune dysregulation in primary immunodeficiency disorders. Immunol Allergy Clin North Am 2008, 28:315-327. viii-ix, 10.1016/j.iac.2008.02.002, 18424335.
-
(2008)
Immunol Allergy Clin North Am
, vol.28
, pp. 315-327
-
-
Torgerson, T.R.1
-
12
-
-
0025733274
-
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease
-
10.1016/S0022-3476(05)81040-6, 2066860
-
Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 1991, 119:64-72. 10.1016/S0022-3476(05)81040-6, 2066860.
-
(1991)
J Pediatr
, vol.119
, pp. 64-72
-
-
Spranger, J.1
Hinkel, G.K.2
Stoss, H.3
Thoenes, W.4
Wargowski, D.5
Zepp, F.6
-
13
-
-
0015222485
-
Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome
-
Schimke RN, Horton WA, King CR. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet 1971, 2:1088-1089.
-
(1971)
Lancet
, vol.2
, pp. 1088-1089
-
-
Schimke, R.N.1
Horton, W.A.2
King, C.R.3
-
14
-
-
0028893314
-
Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia
-
Ehrich JH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, Brodehl J. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 1995, 43:89-95.
-
(1995)
Clin Nephrol
, vol.43
, pp. 89-95
-
-
Ehrich, J.H.1
Burchert, W.2
Schirg, E.3
Krull, F.4
Offner, G.5
Hoyer, P.F.6
Brodehl, J.7
-
15
-
-
0033993725
-
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
-
10.1007/s004310050001, 10653321
-
Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000, 159:1-7. 10.1007/s004310050001, 10653321.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 1-7
-
-
Boerkoel, C.F.1
O'Neill, S.2
Andre, J.L.3
Benke, P.J.4
Bogdanovic, R.5
Bulla, M.6
Burguet, A.7
Cockfield, S.8
Cordeiro, I.9
Ehrich, J.H.10
-
16
-
-
0032486131
-
Autoimmune enteropathy in Schimke immunoosseous dysplasia
-
10.1002/(SICI)1096-8628(19980605)77:5<427::AID-AJMG14>3.0.CO;2-K, 9632175
-
Kaitila I, Savilahti E, Ormala T. Autoimmune enteropathy in Schimke immunoosseous dysplasia. Am J Med Genet 1998, 77:427-430. 10.1002/(SICI)1096-8628(19980605)77:5<427::AID-AJMG14>3.0.CO;2-K, 9632175.
-
(1998)
Am J Med Genet
, vol.77
, pp. 427-430
-
-
Kaitila, I.1
Savilahti, E.2
Ormala, T.3
-
17
-
-
20044373274
-
Association of migraine-like headaches with Schimke immuno-osseous dysplasia
-
Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, Andre JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, et al. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet A 2005, 135:206-210.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 206-210
-
-
Kilic, S.S.1
Donmez, O.2
Sloan, E.A.3
Elizondo, L.I.4
Huang, C.5
Andre, J.L.6
Bogdanovic, R.7
Cockfield, S.8
Cordeiro, I.9
Deschenes, G.10
-
18
-
-
0025348459
-
Association of spondylo-epiphyseal dysplasia with nephrotic syndrome
-
10.1007/BF00858821, 2397176
-
Ehrich JH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol 1990, 4:117-121. 10.1007/BF00858821, 2397176.
-
(1990)
Pediatr Nephrol
, vol.4
, pp. 117-121
-
-
Ehrich, J.H.1
Offner, G.2
Schirg, E.3
Hoyer, P.F.4
Helmchen, U.5
Brodehl, J.6
-
19
-
-
0027979840
-
Juvenile variant of Schimke immunoosseous dysplasia
-
10.1002/ajmg.1320490304, 8209883
-
Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 1994, 49:266-269. 10.1002/ajmg.1320490304, 8209883.
-
(1994)
Am J Med Genet
, vol.49
, pp. 266-269
-
-
Hashimoto, K.1
Takeuchi, A.2
Ieshima, A.3
Takada, M.4
Kasagi, M.5
-
20
-
-
33847186637
-
Schimke immunoosseous dysplasia: suggestions of genetic diversity
-
10.1002/humu.20432, 17089404
-
Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lucke T, Alpay H, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007, 28:273-283. 10.1002/humu.20432, 17089404.
-
(2007)
Hum Mutat
, vol.28
, pp. 273-283
-
-
Clewing, J.M.1
Fryssira, H.2
Goodman, D.3
Smithson, S.F.4
Sloan, E.A.5
Lou, S.6
Huang, Y.7
Choi, K.8
Lucke, T.9
Alpay, H.10
-
21
-
-
18544381908
-
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
-
10.1038/ng821, 11799392
-
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 2002, 30:215-220. 10.1038/ng821, 11799392.
-
(2002)
Nat Genet
, vol.30
, pp. 215-220
-
-
Boerkoel, C.F.1
Takashima, H.2
John, J.3
Yan, J.4
Stankiewicz, P.5
Rosenbarker, L.6
Andre, J.L.7
Bogdanovic, R.8
Burguet, A.9
Cockfield, S.10
-
22
-
-
70350111290
-
The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks
-
10.1101/gad.1839909, 2764496, 19793861
-
Bansbach CE, Betous R, Lovejoy CA, Glick GG, Cortez D. The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks. Genes Dev 2009, 23:2405-2414. 10.1101/gad.1839909, 2764496, 19793861.
-
(2009)
Genes Dev
, vol.23
, pp. 2405-2414
-
-
Bansbach, C.E.1
Betous, R.2
Lovejoy, C.A.3
Glick, G.G.4
Cortez, D.5
-
23
-
-
70350124025
-
HARPing on about the DNA damage response during replication
-
10.1101/gad.1860609, 2764495, 19833762
-
Driscoll R, Cimprich KA. HARPing on about the DNA damage response during replication. Genes Dev 2009, 23:2359-2365. 10.1101/gad.1860609, 2764495, 19833762.
-
(2009)
Genes Dev
, vol.23
, pp. 2359-2365
-
-
Driscoll, R.1
Cimprich, K.A.2
-
24
-
-
70350103969
-
The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA
-
10.1101/gad.1831509, 2764493, 19793863
-
Yusufzai T, Kong X, Yokomori K, Kadonaga JT. The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. Genes Dev 2009, 23:2400-2404. 10.1101/gad.1831509, 2764493, 19793863.
-
(2009)
Genes Dev
, vol.23
, pp. 2400-2404
-
-
Yusufzai, T.1
Kong, X.2
Yokomori, K.3
Kadonaga, J.T.4
-
25
-
-
70350088521
-
The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart
-
10.1101/gad.1832309, 2764500, 19793862
-
Ciccia A, Bredemeyer AL, Sowa ME, Terret ME, Jallepalli PV, Harper JW, Elledge SJ. The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev 2009, 23:2415-2425. 10.1101/gad.1832309, 2764500, 19793862.
-
(2009)
Genes Dev
, vol.23
, pp. 2415-2425
-
-
Ciccia, A.1
Bredemeyer, A.L.2
Sowa, M.E.3
Terret, M.E.4
Jallepalli, P.V.5
Harper, J.W.6
Elledge, S.J.7
-
27
-
-
80053338418
-
Schimke immuno-osseous dysplasia: a disorder of transcriptional responses to cell signaling?
-
Morimoto M, Cho K-S, Myung C, Shaw CA, Beirnes K, Leung D, Fam H-K, Choi K, Huang Y, Huang C, et al. Schimke immuno-osseous dysplasia: a disorder of transcriptional responses to cell signaling?. Submitted 2011,
-
(2011)
Submitted
-
-
Morimoto, M.1
Cho, K.-S.2
Myung, C.3
Shaw, C.A.4
Beirnes, K.5
Leung, D.6
Fam, H.-K.7
Choi, K.8
Huang, Y.9
Huang, C.10
-
28
-
-
0037110974
-
International nosology and classification of constitutional disorders of bone (2001)
-
10.1002/ajmg.10828, 12400068
-
Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002, 113:65-77. 10.1002/ajmg.10828, 12400068.
-
(2002)
Am J Med Genet
, vol.113
, pp. 65-77
-
-
Hall, C.M.1
-
29
-
-
0033286171
-
Syndromes associated with immunodeficiency
-
Ming JE, Stiehm ER, Graham JM. Syndromes associated with immunodeficiency. Adv Pediatr 1999, 46:271-351.
-
(1999)
Adv Pediatr
, vol.46
, pp. 271-351
-
-
Ming, J.E.1
Stiehm, E.R.2
Graham, J.M.3
-
30
-
-
33747273724
-
Common variable immune deficiency and autoimmunity
-
10.1016/j.autrev.2006.03.010, 16920573
-
Brandt D, Gershwin ME. Common variable immune deficiency and autoimmunity. Autoimmun Rev 2006, 5:465-470. 10.1016/j.autrev.2006.03.010, 16920573.
-
(2006)
Autoimmun Rev
, vol.5
, pp. 465-470
-
-
Brandt, D.1
Gershwin, M.E.2
-
31
-
-
31144476501
-
Inflammatory and autoimmune complications of common variable immune deficiency
-
10.1016/j.autrev.2005.10.002, 16431351
-
Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006, 5:156-159. 10.1016/j.autrev.2005.10.002, 16431351.
-
(2006)
Autoimmun Rev
, vol.5
, pp. 156-159
-
-
Knight, A.K.1
Cunningham-Rundles, C.2
-
32
-
-
0035068042
-
Infections in patients with immunodeficiency with thymoma (Good syndrome). Report of 5 cases and review of the literature
-
Tarr PE, Sneller MC, Mechanic LJ, Economides A, Eger CM, Strober W, Cunningham-Rundles C, Lucey DR. Infections in patients with immunodeficiency with thymoma (Good syndrome). Report of 5 cases and review of the literature. Medicine (Baltimore) 2001, 80:123-133.
-
(2001)
Medicine (Baltimore)
, vol.80
, pp. 123-133
-
-
Tarr, P.E.1
Sneller, M.C.2
Mechanic, L.J.3
Economides, A.4
Eger, C.M.5
Strober, W.6
Cunningham-Rundles, C.7
Lucey, D.R.8
-
34
-
-
0037736679
-
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients
-
10.1542/peds.111.5.e622, 12728121
-
Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova JL, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003, 111:e622-627. 10.1542/peds.111.5.e622, 12728121.
-
(2003)
Pediatrics
, vol.111
-
-
Dupuis-Girod, S.1
Medioni, J.2
Haddad, E.3
Quartier, P.4
Cavazzana-Calvo, M.5
Le Deist, F.6
de Saint Basile, G.7
Delaunay, J.8
Schwarz, K.9
Casanova, J.L.10
-
35
-
-
0028116532
-
A multiinstitutional survey of the Wiskott-Aldrich syndrome
-
10.1016/S0022-3476(05)82002-5, 7996359
-
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994, 125:876-885. 10.1016/S0022-3476(05)82002-5, 7996359.
-
(1994)
J Pediatr
, vol.125
, pp. 876-885
-
-
Sullivan, K.E.1
Mullen, C.A.2
Blaese, R.M.3
Winkelstein, J.A.4
-
36
-
-
47649120740
-
Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors
-
10.1182/blood-2007-12-127878, 2442741, 18456875
-
Zonios DI, Falloon J, Bennett JE, Shaw PA, Chaitt D, Baseler MW, Adelsberger JW, Metcalf JA, Polis MA, Kovacs SJ, et al. Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. Blood 2008, 112:287-294. 10.1182/blood-2007-12-127878, 2442741, 18456875.
-
(2008)
Blood
, vol.112
, pp. 287-294
-
-
Zonios, D.I.1
Falloon, J.2
Bennett, J.E.3
Shaw, P.A.4
Chaitt, D.5
Baseler, M.W.6
Adelsberger, J.W.7
Metcalf, J.A.8
Polis, M.A.9
Kovacs, S.J.10
-
37
-
-
32444442505
-
Schimke immuno-osseous dysplasia: a cell autonomous disorder?
-
Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, Boerkoel CF. Schimke immuno-osseous dysplasia: a cell autonomous disorder?. Am J Med Genet A 2006, 140:340-348.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 340-348
-
-
Elizondo, L.I.1
Huang, C.2
Northrop, J.L.3
Deguchi, K.4
Clewing, J.M.5
Armstrong, D.L.6
Boerkoel, C.F.7
-
38
-
-
0033635592
-
Successful bone marrow transplantation in a patient with Schimke immuno- osseous dysplasia
-
10.1067/mpd.2000.109147, 11113849
-
Petty EM, Yanik GA, Hutchinson RJ, Alter BP, Schmalstieg FC, Levine JE, Ginsburg D, Robillard JE, Castle VP. Successful bone marrow transplantation in a patient with Schimke immuno- osseous dysplasia. J Pediatr 2000, 137:882-886. 10.1067/mpd.2000.109147, 11113849.
-
(2000)
J Pediatr
, vol.137
, pp. 882-886
-
-
Petty, E.M.1
Yanik, G.A.2
Hutchinson, R.J.3
Alter, B.P.4
Schmalstieg, F.C.5
Levine, J.E.6
Ginsburg, D.7
Robillard, J.E.8
Castle, V.P.9
-
39
-
-
0027442817
-
Schimke immuno-osseous dysplasia: case report and review
-
10.1002/ajmg.1320470538, 8267014
-
Ludman MD, Cole DE, Crocker JF, Cohen MM. Schimke immuno-osseous dysplasia: case report and review. Am J Med Genet 1993, 47:793-796. 10.1002/ajmg.1320470538, 8267014.
-
(1993)
Am J Med Genet
, vol.47
, pp. 793-796
-
-
Ludman, M.D.1
Cole, D.E.2
Crocker, J.F.3
Cohen, M.M.4
|