-
1
-
-
33845641138
-
Current perspectives on primary immunodeficiency diseases
-
Kumar A, Teuber SS, Gershwin ME. Current perspectives on primary immunodeficiency diseases. Clin Dev Immunol 2006 13 : 223 259.
-
(2006)
Clin Dev Immunol
, vol.13
, pp. 223-259
-
-
Kumar, A.1
Teuber, S.S.2
Gershwin, M.E.3
-
2
-
-
0000419304
-
Agammaglobulinemia
-
Bruton OC. Agammaglobulinemia. Pediatrics 1952 9 : 722 728.
-
(1952)
Pediatrics
, vol.9
, pp. 722-728
-
-
Bruton, O.C.1
-
3
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
Geha RS, Notarangelo LD, Casanova JL 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
-
4
-
-
33846210019
-
The European internet-based patient and research database for primary immunodeficiencies: Results 2004-06
-
Eades-Perner AM, Gathmann B, Knerr V et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol 2007 147 : 306 312.
-
(2007)
Clin Exp Immunol
, vol.147
, pp. 306-312
-
-
Eades-Perner, A.M.1
Gathmann, B.2
Knerr, V.3
-
5
-
-
33750973379
-
BTKbase: The mutation database for X-linked agammaglobulinemia
-
Valiaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat 2006 27 : 1209 1217.
-
(2006)
Hum Mutat
, vol.27
, pp. 1209-1217
-
-
Valiaho, J.1
Smith, C.I.2
Vihinen, M.3
-
6
-
-
34548491824
-
Tolerance and autoimmunity: Lessons at the bedside of primary immunodeficiencies
-
DOI 10.1016/S0065-2776(07)95002-6, PII S0065277607950026
-
Carneiro-Sampaio M, Coutinho A. Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. Adv Immunol 2007 95 : 51 82. (Pubitemid 47380503)
-
(2007)
Advances in Immunology
, vol.95
, pp. 51-82
-
-
Carneiro-Sampaio, M.1
Coutinho, A.2
-
7
-
-
34347348236
-
Epidemiology of autoimmune diseases in Denmark
-
Eaton WW, Rose NR, Kalaydjian A, Pedersen MG, Mortensen PB. Epidemiology of autoimmune diseases in Denmark. J Autoimmun 2007 29 : 1 9.
-
(2007)
J Autoimmun
, vol.29
, pp. 1-9
-
-
Eaton, W.W.1
Rose, N.R.2
Kalaydjian, A.3
Pedersen, M.G.4
Mortensen, P.B.5
-
8
-
-
0031240055
-
Epidemiology and estimated population burden of selected autoimmune diseases in the United States
-
Jacobson DL, Gange SJ, Rose NR, Graham NM. Epidemiology and estimated population burden of selected autoimmune diseases in the United States. Clin Immunol Immunopathol 1997 84 : 223 243.
-
(1997)
Clin Immunol Immunopathol
, vol.84
, pp. 223-243
-
-
Jacobson, D.L.1
Gange, S.J.2
Rose, N.R.3
Graham, N.M.4
-
9
-
-
0141840911
-
Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: Effect of multiple gene interactions
-
Candore G, Lio D, Colonna Romano G, Caruso C. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: effect of multiple gene interactions. Autoimmun Rev 2002 1 : 29 35.
-
(2002)
Autoimmun Rev
, vol.1
, pp. 29-35
-
-
Candore, G.1
Lio, D.2
Colonna Romano, G.3
Caruso, C.4
-
10
-
-
67349236051
-
The genetics and epigenetics of autoimmune diseases
-
Hewagama A, Richardson B. The genetics and epigenetics of autoimmune diseases. J Autoimmun 2009 33 : 3 11.
-
(2009)
J Autoimmun
, vol.33
, pp. 3-11
-
-
Hewagama, A.1
Richardson, B.2
-
11
-
-
68049119932
-
Monogenic autoimmune diseases: Insights into self-tolerance
-
Su MA, Anderson MS. Monogenic autoimmune diseases: insights into self-tolerance. Pediatr Res 2009 65 : 20R 5R.
-
(2009)
Pediatr Res
, vol.65
-
-
Su, M.A.1
Anderson, M.S.2
-
12
-
-
56349102675
-
Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency - Lessons learned from monogenic disorders in mice and men
-
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.
-
(2008)
Curr Opin Immunol
, vol.20
, pp. 646-654
-
-
Westerberg, L.S.1
Klein, C.2
Snapper, S.B.3
-
13
-
-
48649086968
-
Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases
-
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.
-
(2008)
Clin Rev Allergy Immunol
, vol.34
, pp. 141-145
-
-
Lehman, H.K.1
Ballow, M.2
-
14
-
-
44449110577
-
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED
-
Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD. Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 2008 28 (Suppl. 1 S11 9.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
, pp. 11-9
-
-
Moraes-Vasconcelos, D.1
Costa-Carvalho, B.T.2
Torgerson, T.R.3
Ochs, H.D.4
-
15
-
-
0036346861
-
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
-
Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002 39 : 537 545.
-
(2002)
J Med Genet
, vol.39
, pp. 537-545
-
-
Wildin, R.S.1
Smyk-Pearson, S.2
Filipovich, A.H.3
-
16
-
-
64549115221
-
Clinical review 93: Autoimmune polyglandular syndrome type 1
-
Betterle C, Greggio NA, Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998 83 : 1049 1055.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1049-1055
-
-
Betterle, C.1
Greggio, N.A.2
Volpato, M.3
-
17
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990 322 : 1829 1836.
-
(1990)
N Engl J Med
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Myllarniemi, S.2
Sipila, I.3
Perheentupa, J.4
-
18
-
-
0033752720
-
Systemic lupus erythematosus, complement deficiency, and apoptosis
-
Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol 2000 76 : 227 324.
-
(2000)
Adv Immunol
, vol.76
, pp. 227-324
-
-
Pickering, M.C.1
Botto, M.2
Taylor, P.R.3
Lachmann, P.J.4
Walport, M.J.5
-
19
-
-
77951050073
-
Complement deficiencies in humans
-
In. Rother, K. Till, G.O. Hänsch, G.M. eds.
-
Rother K. Complement deficiencies in humans. In : Rother K, Till GO, Hänsch GM, eds. The Complement System, 2nd revised edn.
-
The Complement System, 2nd Revised Edn.
-
-
Rother, K.1
-
20
-
-
0031723888
-
Complement deficiency and autoimmunity
-
Sullivan KE. Complement deficiency and autoimmunity. Curr Opin Pediatr 1998 10 : 600 606.
-
(1998)
Curr Opin Pediatr
, vol.10
, pp. 600-606
-
-
Sullivan, K.E.1
-
21
-
-
2642641297
-
Participation of factor B in residual immune complex red cell binding activity observed in serum from a C2-deficient systemic lupus erythematosus patient may delay the appearance of clinical symptoms
-
Traustadottir KH, Rafnar BO, Steinsson K, Valdimarsson H, Erlendsson K. Participation of factor B in residual immune complex red cell binding activity observed in serum from a C2-deficient systemic lupus erythematosus patient may delay the appearance of clinical symptoms. Arthritis Rheum 1998 41 : 427 434.
-
(1998)
Arthritis Rheum
, vol.41
, pp. 427-434
-
-
Traustadottir, K.H.1
Rafnar, B.O.2
Steinsson, K.3
Valdimarsson, H.4
Erlendsson, K.5
-
22
-
-
0023505897
-
Deficiency of the effector mechanisms of the immune response and autoimmunity
-
Lachmann PJ, Walport MJ. Deficiency of the effector mechanisms of the immune response and autoimmunity. Ciba Found Symp 1987 129 : 149 171.
-
(1987)
Ciba Found Symp
, vol.129
, pp. 149-171
-
-
Lachmann, P.J.1
Walport, M.J.2
-
23
-
-
0036181999
-
Deficiency of complement-dependent prevention of immune precipitation in systemic sclerosis
-
Arason GJ, Geirsson AJ, Kolka R, Vikingsdottir T, Valdimarsson H. Deficiency of complement-dependent prevention of immune precipitation in systemic sclerosis. Ann Rheum Dis 2002 61 : 257 260.
-
(2002)
Ann Rheum Dis
, vol.61
, pp. 257-260
-
-
Arason, G.J.1
Geirsson, A.J.2
Kolka, R.3
Vikingsdottir, T.4
Valdimarsson, H.5
-
24
-
-
3042593372
-
Patients with systemic lupus erythematosus are deficient in complement-dependent prevention of immune precipitation
-
Arason GJ, Steinsson K, Kolka R, Vikingsdottir T, D'Ambrogio MS, Valdimarsson H. Patients with systemic lupus erythematosus are deficient in complement-dependent prevention of immune precipitation. Rheumatology (Oxford) 2004 43 : 783 789.
-
(2004)
Rheumatology (Oxford)
, vol.43
, pp. 783-789
-
-
Arason, G.J.1
Steinsson, K.2
Kolka, R.3
Vikingsdottir, T.4
D'Ambrogio, M.S.5
Valdimarsson, H.6
-
25
-
-
33748413638
-
Mannose-binding lectin in innate immunity: Past, present and future
-
Dommett RM, Klein N, Turner MW. Mannose-binding lectin in innate immunity: past, present and future. Tissue Antigens 2006 68 : 193 209.
-
(2006)
Tissue Antigens
, vol.68
, pp. 193-209
-
-
Dommett, R.M.1
Klein, N.2
Turner, M.W.3
-
26
-
-
3242660135
-
The potential role of mannan-binding lectin in the clearance of self-components including immune complexes
-
Saevarsdottir S, Vikingsdottir T, Valdimarsson H. The potential role of mannan-binding lectin in the clearance of self-components including immune complexes. Scand J Immunol 2004 60 : 23 9.
-
(2004)
Scand J Immunol
, vol.60
, pp. 23-9
-
-
Saevarsdottir, S.1
Vikingsdottir, T.2
Valdimarsson, H.3
-
27
-
-
0042709606
-
Inherited deficiency of mannan-binding lectin-associated serine protease 2
-
DOI 10.1056/NEJMoa022836
-
Stengaard-Pedersen K, Thiel S, Gadjeva M et al. Inherited deficiency of mannan-binding lectin-associated serine protease 2. N Engl J Med 2003 349 : 554 560. (Pubitemid 36951367)
-
(2003)
New England Journal of Medicine
, vol.349
, Issue.6
, pp. 554-560
-
-
Stengaard-Pedersen, K.1
Thiel, S.2
Gadjeva, M.3
Moller-Kristensen, M.4
Sorensen, R.5
Jensen, L.T.6
Sjoholm, A.G.7
Fugger, L.8
Jensenius, J.C.9
-
28
-
-
67449161588
-
Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency
-
Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P. Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. N Engl J Med 2009 360 : 2637 2644.
-
(2009)
N Engl J Med
, vol.360
, pp. 2637-2644
-
-
Munthe-Fog, L.1
Hummelshoj, T.2
Honore, C.3
Madsen, H.O.4
Permin, H.5
Garred, P.6
-
29
-
-
0035091495
-
Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4
-
Blanchong CA, Chung EK, Rupert KL et al. Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4. Int Immunopharmacol 2001 1 : 365 392.
-
(2001)
Int Immunopharmacol
, vol.1
, pp. 365-392
-
-
Blanchong, C.A.1
Chung, E.K.2
Rupert, K.L.3
-
30
-
-
0034686608
-
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. the load of RCCX genetic diversity on major histocompatibility complex-associated disease
-
Blanchong CA, Zhou B, Rupert KL et al. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med 2000 191 : 2183 2196.
-
(2000)
J Exp Med
, vol.191
, pp. 2183-2196
-
-
Blanchong, C.A.1
Zhou, B.2
Rupert, K.L.3
-
31
-
-
34250841166
-
Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
-
Yang Y, Chung EK, Wu YL et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007 80 : 1037 1054.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 1037-1054
-
-
Yang, Y.1
Chung, E.K.2
Wu, Y.L.3
-
32
-
-
1442288762
-
The intricate role of complement component C4 in human systemic lupus erythematosus
-
Yang Y, Chung EK, Zhou B et al. The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun 2004 7 : 98 132.
-
(2004)
Curr Dir Autoimmun
, vol.7
, pp. 98-132
-
-
Yang, Y.1
Chung, E.K.2
Zhou, B.3
-
33
-
-
20444441627
-
Defective prevention of immune precipitation in autoimmune diseases is independent of C4A*Q0
-
Arason GJ, Kolka R, Hreidarsson AB et al. Defective prevention of immune precipitation in autoimmune diseases is independent of C4A*Q0. Clin Exp Immunol 2005 140 : 572 579.
-
(2005)
Clin Exp Immunol
, vol.140
, pp. 572-579
-
-
Arason, G.J.1
Kolka, R.2
Hreidarsson, A.B.3
-
34
-
-
16244369446
-
Increased frequency of C4B*Q0 alleles in patients with Henoch-Schonlein purpura
-
Stefansson Thors V, Kolka R, Sigurdardottir SL, Edvardsson VO, Arason G, Haraldsson A. Increased frequency of C4B*Q0 alleles in patients with Henoch-Schonlein purpura. Scand J Immunol 2005 61 : 274 278.
-
(2005)
Scand J Immunol
, vol.61
, pp. 274-278
-
-
Stefansson Thors, V.1
Kolka, R.2
Sigurdardottir, S.L.3
Edvardsson, V.O.4
Arason, G.5
Haraldsson, A.6
-
35
-
-
0021472477
-
A comparison of the properties of two classes, C4A and C4B, of the human complement component C4
-
Law SK, Dodds AW, Porter RR. A comparison of the properties of two classes, C4A and C4B, of the human complement component C4. EMBO J 1984 3 : 1819 1823.
-
(1984)
EMBO J
, vol.3
, pp. 1819-1823
-
-
Law, S.K.1
Dodds, A.W.2
Porter, R.R.3
-
36
-
-
22444448601
-
Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations
-
Ittiprasert W, Kantachuvesiri S, Pavasuthipaisit K et al. Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations. J Autoimmun 2005 25 : 77 84.
-
(2005)
J Autoimmun
, vol.25
, pp. 77-84
-
-
Ittiprasert, W.1
Kantachuvesiri, S.2
Pavasuthipaisit, K.3
-
37
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
Levy J, Espanol-Boren T, Thomas C et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997 131 : 47 54.
-
(1997)
J Pediatr
, vol.131
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
-
39
-
-
10744226125
-
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
-
Quartier P, Bustamante J, Sanal O et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol 2004 110 : 22 9.
-
(2004)
Clin Immunol
, vol.110
, pp. 22-9
-
-
Quartier, P.1
Bustamante, J.2
Sanal, O.3
-
40
-
-
0345276650
-
The X-linked hyper-IgM syndrome: Clinical and immunologic features of 79 patients
-
Winkelstein JA, Marino MC, Ochs H et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003 82 : 373 384.
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 373-384
-
-
Winkelstein, J.A.1
Marino, M.C.2
Ochs, H.3
-
41
-
-
67349266245
-
The co-evolution of our understanding of CD40 and inflammation
-
Wagner DH Jr. The co-evolution of our understanding of CD40 and inflammation. Diabetologia 2009 52 : 997 999.
-
(2009)
Diabetologia
, vol.52
, pp. 997-999
-
-
Wagner Jr., D.H.1
-
42
-
-
2942717809
-
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype
-
Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003 3 : 427 436.
-
(2003)
Curr Opin Allergy Clin Immunol
, vol.3
, pp. 427-436
-
-
Imai, K.1
Nonoyama, S.2
Ochs, H.D.3
-
43
-
-
0037736679
-
Autoimmunity in Wiskott-Aldrich syndrome: Risk factors, clinical features, and outcome in a single-center cohort of 55 patients
-
Dupuis-Girod S, Medioni J, Haddad E 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 7.
-
(2003)
Pediatrics
, vol.111
, pp. 622-7
-
-
Dupuis-Girod, S.1
Medioni, J.2
Haddad, E.3
-
45
-
-
33746286879
-
X-linked agammaglobulinemia: Report on a United States registry of 201 patients
-
Winkelstein JA, Marino MC, Lederman HM et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006 85 : 193 202.
-
(2006)
Medicine (Baltimore)
, vol.85
, pp. 193-202
-
-
Winkelstein, J.A.1
Marino, M.C.2
Lederman, H.M.3
-
46
-
-
32044453371
-
The health status and quality of life of adults with X-linked agammaglobulinemia
-
Howard V, Greene JM, Pahwa S et al. The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol 2006 118 : 201 208.
-
(2006)
Clin Immunol
, vol.118
, pp. 201-208
-
-
Howard, V.1
Greene, J.M.2
Pahwa, S.3
-
47
-
-
57149141634
-
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
-
Hanson EP, Monaco-Shawver L, Solt LA et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008 122 (6 1169 1177.
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.6
, pp. 1169-1177
-
-
Hanson, E.P.1
Monaco-Shawver, L.2
Solt, L.A.3
-
48
-
-
27744447066
-
Molecular defects in T- and B-cell primary immunodeficiency diseases
-
DOI 10.1038/nri1713, PII N1713
-
Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol 2005 5 : 880 892. (Pubitemid 41581669)
-
(2005)
Nature Reviews Immunology
, vol.5
, Issue.11
, pp. 880-892
-
-
Cunningham-Rundles, C.1
Ponda, P.P.2
-
49
-
-
44449162969
-
Autoimmunity in severe combined immunodeficiency (SCID): Lessons from patients and experimental models
-
Milner JD, Fasth A, Etzioni A. Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models. J Clin Immunol 2008 28 (Suppl. 1 S29 33.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
, pp. 29-33
-
-
Milner, J.D.1
Fasth, A.2
Etzioni, A.3
-
50
-
-
44449101655
-
Disorders of apoptosis: Mechanisms for autoimmunity in primary immunodeficiency diseases
-
Oliveira JB, Gupta S. Disorders of apoptosis: mechanisms for autoimmunity in primary immunodeficiency diseases. J Clin Immunol 2008 28 (Suppl. 1 S20 8.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
, pp. 20-8
-
-
Oliveira, J.B.1
Gupta, S.2
-
51
-
-
0037279111
-
Autoimmune lymphoproliferative syndromes: Genetic defects of apoptosis pathways
-
Rieux-Laucat F, Le Deist F, Fischer A. Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differ 2003 10 : 124 133.
-
(2003)
Cell Death Differ
, vol.10
, pp. 124-133
-
-
Rieux-Laucat, F.1
Le Deist, F.2
Fischer, A.3
-
52
-
-
0347504843
-
Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome
-
Kwon SW, Procter J, Dale JK, Straus SE, Stroncek DF. Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. Vox Sang 2003 85 : 307 312.
-
(2003)
Vox Sang
, vol.85
, pp. 307-312
-
-
Kwon, S.W.1
Procter, J.2
Dale, J.K.3
Straus, S.E.4
Stroncek, D.F.5
-
54
-
-
0000887667
-
Genetic approach to common variable immunodeficiency
-
In. Ochs, H.D. Smith, C.I.E. Puck, J.M. eds.
-
Hammarstrom L, Smith CIE. Genetic approach to common variable immunodeficiency. In : Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, 2nd edn.
-
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, 2nd Edn.
-
-
Hammarstrom, L.1
Smith, C.I.E.2
-
55
-
-
0032806334
-
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
-
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999 93 : 190 197.
-
(1999)
Clin Immunol
, vol.93
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
56
-
-
0021963399
-
Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia
-
Hammarstrom L, Lonnqvist B, Ringden O, Smith CI, Wiebe T. Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia. Lancet 1985 1 : 778 781.
-
(1985)
Lancet
, vol.1
, pp. 778-781
-
-
Hammarstrom, L.1
Lonnqvist, B.2
Ringden, O.3
Smith, C.I.4
Wiebe, T.5
-
57
-
-
0025765629
-
Incidental correction of severe IgA deficiency by displacement bone marrow transplantation
-
Kurobane I, Riches PG, Sheldon J, Jones S, Hobbs JR. Incidental correction of severe IgA deficiency by displacement bone marrow transplantation. Bone Marrow Transplant 1991 7 : 494 495.
-
(1991)
Bone Marrow Transplant
, vol.7
, pp. 494-495
-
-
Kurobane, I.1
Riches, P.G.2
Sheldon, J.3
Jones, S.4
Hobbs, J.R.5
-
58
-
-
0034108060
-
Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)
-
Hammarstrom L, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol 2000 120 : 225 231.
-
(2000)
Clin Exp Immunol
, vol.120
, pp. 225-231
-
-
Hammarstrom, L.1
Vorechovsky, I.2
Webster, D.3
-
59
-
-
0028212789
-
Molecular analysis of IgA deficiency. Evidence for impaired switching to IgA
-
Islam KB, Baskin B, Nilsson L, Hammarstrom L, Sideras P, Smith CI. Molecular analysis of IgA deficiency. Evidence for impaired switching to IgA. J Immunol 1994 152 : 1442 1452.
-
(1994)
J Immunol
, vol.152
, pp. 1442-1452
-
-
Islam, K.B.1
Baskin, B.2
Nilsson, L.3
Hammarstrom, L.4
Sideras, P.5
Smith, C.I.6
-
60
-
-
0019520239
-
Immature IgA B cells in IgA-deficient patients
-
Conley ME, Cooper MD. Immature IgA B cells in IgA-deficient patients. N Engl J Med 1981 305 : 495 497.
-
(1981)
N Engl J Med
, vol.305
, pp. 495-497
-
-
Conley, M.E.1
Cooper, M.D.2
-
61
-
-
0018955503
-
Differentiation of human B cells expressing the IgA subclasses as demonstrated by monoclonal hybridoma antibodies
-
Conley ME, Kearney JF, Lawton AR III., Cooper MD. Differentiation of human B cells expressing the IgA subclasses as demonstrated by monoclonal hybridoma antibodies. J Immunol 1980 125 : 2311 2316.
-
(1980)
J Immunol
, vol.125
, pp. 2311-2316
-
-
Conley, M.E.1
Kearney, J.F.2
Lawton, III.A.R.3
Cooper, M.D.4
-
62
-
-
69949147603
-
Selective IgA deficiency in early life: Association to infections and allergic diseases during childhood
-
Janzi M, Kull I, Sjoberg R et al. Selective IgA deficiency in early life: association to infections and allergic diseases during childhood. Clin Immunol 2009 133 : 78 85.
-
(2009)
Clin Immunol
, vol.133
, pp. 78-85
-
-
Janzi, M.1
Kull, I.2
Sjoberg, R.3
-
63
-
-
63749103483
-
Familial aggregation of IgAD and autoimmunity
-
Jorgensen GH, Thorsteinsdottir I, Gudmundsson S, Hammarstrom L, Ludviksson BR. Familial aggregation of IgAD and autoimmunity. Clin Immunol 2009 131 : 233 239.
-
(2009)
Clin Immunol
, vol.131
, pp. 233-239
-
-
Jorgensen, G.H.1
Thorsteinsdottir, I.2
Gudmundsson, S.3
Hammarstrom, L.4
Ludviksson, B.R.5
-
64
-
-
0029902596
-
Long-term follow-up of health in blood donors with primary selective IgA deficiency
-
Koskinen S. Long-term follow-up of health in blood donors with primary selective IgA deficiency. J Clin Immunol 1996 16 : 165 170.
-
(1996)
J Clin Immunol
, vol.16
, pp. 165-170
-
-
Koskinen, S.1
-
67
-
-
44449155805
-
Autoimmunity in IgA deficiency: Revisiting the role of IgA as a silent housekeeper
-
Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol 2008 28 (Suppl. 1 S56 61.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
, pp. 56-61
-
-
Jacob, C.M.1
Pastorino, A.C.2
Fahl, K.3
Carneiro-Sampaio, M.4
Monteiro, R.C.5
-
68
-
-
34548448974
-
Selective IgA deficiency in children and adults with systemic lupus erythematosus
-
Cassidy JT, Kitson RK, Selby CL. Selective IgA deficiency in children and adults with systemic lupus erythematosus. Lupus 2007 16 : 647 650.
-
(2007)
Lupus
, vol.16
, pp. 647-650
-
-
Cassidy, J.T.1
Kitson, R.K.2
Selby, C.L.3
-
69
-
-
0034501119
-
Molecular basis of IgG subclass deficiency
-
Pan Q, Hammarstrom L. Molecular basis of IgG subclass deficiency. Immunol Rev 2000 178 : 99 110.
-
(2000)
Immunol Rev
, vol.178
, pp. 99-110
-
-
Pan, Q.1
Hammarstrom, L.2
-
70
-
-
0027729223
-
Clinical significance of IgG subclasses
-
Herrod HG. Clinical significance of IgG subclasses. Curr Opin Pediatr 1993 5 : 696 699.
-
(1993)
Curr Opin Pediatr
, vol.5
, pp. 696-699
-
-
Herrod, H.G.1
-
71
-
-
44549087691
-
Autoimmunity in common variable immunodeficiency
-
Lopes-da-Silva S, Rizzo LV. Autoimmunity in common variable immunodeficiency. J Clin Immunol 2008 28 (Suppl. 1 S46 55.
-
(2008)
J Clin Immunol
, vol.28
, Issue.SUPPL. 1
, pp. 46-55
-
-
Lopes-Da-Silva, S.1
Rizzo, L.V.2
-
72
-
-
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 : 709 727.
-
(2009)
Br J Haematol
, vol.145
, pp. 709-727
-
-
Chapel, H.1
Cunningham-Rundles, C.2
-
73
-
-
42049084134
-
Common variable immunodeficiency: An update on etiology and management
-
ix-x.
-
Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R. Common variable immunodeficiency: an update on etiology and management. Immunol Allergy Clin North Am 2008 28 : 367 386. ix-x.
-
(2008)
Immunol Allergy Clin North Am
, vol.28
, pp. 367-386
-
-
Yong, P.F.1
Tarzi, M.2
Chua, I.3
Grimbacher, B.4
Chee, R.5
-
74
-
-
0036221656
-
Hematologic complications of primary immune deficiencies
-
Cunningham-Rundles C. Hematologic complications of primary immune deficiencies. Blood Rev 2002 16 : 61 4.
-
(2002)
Blood Rev
, vol.16
, pp. 61-4
-
-
Cunningham-Rundles, C.1
-
75
-
-
17844383520
-
The role of infections in the pathogenesis of autoimmune diseases
-
Samarkos M, Vaiopoulos G. The role of infections in the pathogenesis of autoimmune diseases. Curr Drug Targets Inflamm Allergy 2005 4 : 99 103.
-
(2005)
Curr Drug Targets Inflamm Allergy
, vol.4
, pp. 99-103
-
-
Samarkos, M.1
Vaiopoulos, G.2
-
76
-
-
9644274030
-
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
-
Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol 2004 4 : 505 512.
-
(2004)
Curr Opin Allergy Clin Immunol
, vol.4
, pp. 505-512
-
-
Sullivan, K.E.1
-
77
-
-
0031722936
-
A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland
-
Steinsson K, Jonsdottir S, Arason GJ et al. A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland. Ann Rheum Dis 1998 57 : 503 505.
-
(1998)
Ann Rheum Dis
, vol.57
, pp. 503-505
-
-
Steinsson, K.1
Jonsdottir, S.2
Arason, G.J.3
-
78
-
-
33646052603
-
Clinical review: Type 1 diabetes-associated autoimmunity: Natural history, genetic associations, and screening
-
Barker JM. Clinical review: Type 1 diabetes-associated autoimmunity: natural history, genetic associations, and screening. J Clin Endocrinol Metab 2006 91 : 1210 1217.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1210-1217
-
-
Barker, J.M.1
-
79
-
-
0032883916
-
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus
-
Sullivan KE, Kim NA, Goldman D, Petri MA. C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. J Rheumatol 1999 26 : 2144 2147.
-
(1999)
J Rheumatol
, vol.26
, pp. 2144-2147
-
-
Sullivan, K.E.1
Kim, N.A.2
Goldman, D.3
Petri, M.A.4
-
80
-
-
33646739880
-
Antibody deficiencies
-
In. Stiehm, E.R. Ochs, H.D. Winkelstein, J.A. eds.
-
Ochs HD, Stiehm ER, Winkelstein JA. Antibody deficiencies. In : Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic Disorders in Infants and Children, 5th edn.
-
Immunologic Disorders in Infants and Children, 5th Edn.
-
-
Ochs, H.D.1
Stiehm, E.R.2
Winkelstein, J.A.3
-
82
-
-
34249048637
-
Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency
-
Quinti I, Soresina A, Spadaro G et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007 27 : 308 316.
-
(2007)
J Clin Immunol
, vol.27
, pp. 308-316
-
-
Quinti, I.1
Soresina, A.2
Spadaro, G.3
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