-
1
-
-
0030740082
-
Common variable immunodeficiency: How many diseases?
-
Spickett GP, Farrant J, North ME, Zhang JG, Morgan L, Webster AD. Common variable immunodeficiency: how many diseases? Immunol Today 1997; 18:325-8.
-
(1997)
Immunol Today
, vol.18
, pp. 325-328
-
-
Spickett, G.P.1
Farrant, J.2
North, M.E.3
Zhang, J.G.4
Morgan, L.5
Webster, A.D.6
-
2
-
-
0030804030
-
Primary immunodeficiency diseases. Report of a WHO Scientific Group
-
WHO Scientific Group. Primary immunodeficiency diseases. Report of a WHO Scientific Group. Clin Exp Immunol 1997; 109(Suppl. 1):1-28.
-
(1997)
Clin Exp Immunol
, vol.109
, Issue.1 SUPPL.
, pp. 1-28
-
-
-
3
-
-
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; 93:190-7.
-
(1999)
Clin Immunol
, vol.93
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
5
-
-
0032976666
-
Common variable immunodeficiency, clinical and immunological features of 248 patients
-
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency, clinical and immunological features of 248 patients. Clin Immunol 1999; 92:34-48.
-
(1999)
Clin Immunol
, vol.92
, pp. 34-48
-
-
Cunningham-Rundles, C.1
Bodian, C.2
-
7
-
-
0027414691
-
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
-
Allen RC, Armitage RJ, Conley ME et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259:990-3.
-
(1993)
Science
, vol.259
, pp. 990-993
-
-
Allen, R.C.1
Armitage, R.J.2
Conley, M.E.3
-
8
-
-
0027394391
-
The CD40 ligand, gp39, is detective in activated T cells from patients with X-linked hyper-IgM syndrome
-
Aruffo A, Farrington M, Hollenbaugh D et al. The CD40 ligand, gp39, is detective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993; 72:291-300.
-
(1993)
Cell
, vol.72
, pp. 291-300
-
-
Aruffo, A.1
Farrington, M.2
Hollenbaugh, D.3
-
9
-
-
0027398544
-
40 Ligand mutations in X-linked immunodeficiency with hyper-IgM
-
DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint BGCD. 40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 1993; 361:541-3.
-
(1993)
Nature
, vol.361
, pp. 541-543
-
-
DiSanto, J.P.1
Bonnefoy, J.Y.2
Gauchat, J.F.3
Fischer, A.4
De Saint, B.G.C.D.5
-
10
-
-
0027462664
-
Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM
-
Fuleihan R, Ramesh N, Loh R et al. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci USA 1993; 90:2170-3.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2170-2173
-
-
Fuleihan, R.1
Ramesh, N.2
Loh, R.3
-
11
-
-
0027533185
-
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
-
Korthauer U, Graf D, Mages HW et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 1993; 361:539-41.
-
(1993)
Nature
, vol.361
, pp. 539-541
-
-
Korthauer, U.1
Graf, D.2
Mages, H.W.3
-
12
-
-
0027199021
-
Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1)
-
Ramesh N, Fuleihan R, Ramesh V et al. Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Int Immunol 1993; 5:769-73.
-
(1993)
Int Immunol
, vol.5
, pp. 769-773
-
-
Ramesh, N.1
Fuleihan, R.2
Ramesh, V.3
-
13
-
-
0022596189
-
Evidence for a defect in 'switch' T cells in patients with immunodeficiency and hyperimmunoglobulinemia M
-
Mayer L, Kwan SP, Thompson C, Ko HS, Chiorazzi N, Waldmann T, Rosen F. Evidence for a defect in 'switch' T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. N Engl J Med 1986; 314:409-13.
-
(1986)
N Engl J Med
, vol.314
, pp. 409-413
-
-
Mayer, L.1
Kwan, S.P.2
Thompson, C.3
Ko, H.S.4
Chiorazzi, N.5
Waldmann, T.6
Rosen, F.7
-
14
-
-
0034264851
-
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
-
Revy P, Muto T, Levy Y et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 2000; 102:565-75.
-
(2000)
Cell
, vol.102
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
-
15
-
-
0035940417
-
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
-
Ferrari S, Giliani S, Insalaco A et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001; 98:12614-9.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 12614-12619
-
-
Ferrari, S.1
Giliani, S.2
Insalaco, A.3
-
16
-
-
0037329301
-
Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency
-
Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A, Genel F, Notarangelo LD. Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr 2003; 142:194-6.
-
(2003)
J Pediatr
, vol.142
, pp. 194-196
-
-
Kutukculer, N.1
Moratto, D.2
Aydinok, Y.3
Lougaris, V.4
Aksoylar, S.5
Plebani, A.6
Genel, F.7
Notarangelo, L.D.8
-
17
-
-
0142092610
-
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class switch recombination
-
Imai K, Slupphaug G, Lee W-I et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class switch recombination. Nat Immunol 2003; 4:1023-8.
-
(2003)
Nat Immunol
, vol.4
, pp. 1023-1028
-
-
Imai, K.1
Slupphaug, G.2
Lee, W.-I.3
-
18
-
-
0033658369
-
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
-
Zonana J, Elder ME, Schneider LC et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000; 67:1555-62.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1555-1562
-
-
Zonana, J.1
Elder, M.E.2
Schneider, L.C.3
-
19
-
-
0035286726
-
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
-
Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001; 2:223-8.
-
(2001)
Nat Immunol
, vol.2
, pp. 223-228
-
-
Jain, A.1
Ma, C.A.2
Liu, S.3
Brown, M.4
Cohen, J.5
Strober, W.6
-
20
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Döffinger R, Smahi A, Bessia C et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001; 27:277-85.
-
(2001)
Nat Genet
, vol.27
, pp. 277-285
-
-
Döffinger, R.1
Smahi, A.2
Bessia, C.3
-
21
-
-
0036259559
-
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations
-
Orange JS, Brodeur SR, Jain A et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest 2002; 109:1501-9.
-
(2002)
J Clin Invest
, vol.109
, pp. 1501-1509
-
-
Orange, J.S.1
Brodeur, S.R.2
Jain, A.3
-
22
-
-
85047693702
-
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination
-
Imai K, Catalan N, Plebani A et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest 2003; 112:136-42.
-
(2003)
J Clin Invest
, vol.112
, pp. 136-142
-
-
Imai, K.1
Catalan, N.2
Plebani, A.3
-
23
-
-
0034268780
-
Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme
-
Muramatsu M, Kinoshita K, Fagarasan S, Yamada S, Shinkai Y, Honjo T. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 2000; 102:553-63.
-
(2000)
Cell
, vol.102
, pp. 553-563
-
-
Muramatsu, M.1
Kinoshita, K.2
Fagarasan, S.3
Yamada, S.4
Shinkai, Y.5
Honjo, T.6
-
24
-
-
0035970105
-
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans
-
Weller S, Faili A, Garcia C et al. CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. Proc Natl Acad Sci USA 2001; 98:1166-70.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 1166-1170
-
-
Weller, S.1
Faili, A.2
Garcia, C.3
-
25
-
-
0032573184
-
Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome
-
Levy Y, Gupta N, Le Deist F, Garcia C, Fischer A, Weill JC, Reynaud CA. Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome. Proc Natl Acad Sci USA 1998; 95:13135-40.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13135-13140
-
-
Levy, Y.1
Gupta, N.2
Le Deist, F.3
Garcia, C.4
Fischer, A.5
Weill, J.C.6
Reynaud, C.A.7
-
26
-
-
0034668068
-
Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency
-
Bonhomme D, Hammarstrom L, Webster D et al. Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency. J Immunol 2000; 165: 4725-30.
-
(2000)
J Immunol
, vol.165
, pp. 4725-4730
-
-
Bonhomme, D.1
Hammarstrom, L.2
Webster, D.3
-
27
-
-
0028829944
-
Structural organization of the gene for CD40 ligand, molecular analysis for diagnosis of X-linked hyper-IgM syndrome
-
Shimadzu M, Nunoi H, Terasaki H, Ninomiya R, Iwata M, Kanegasaka S, Matsuda I. Structural organization of the gene for CD40 ligand, molecular analysis for diagnosis of X-linked hyper-IgM syndrome. Biochim Biophys Acta 1995; 1260:67-72.
-
(1995)
Biochim Biophys Acta
, vol.1260
, pp. 67-72
-
-
Shimadzu, M.1
Nunoi, H.2
Terasaki, H.3
Ninomiya, R.4
Iwata, M.5
Kanegasaka, S.6
Matsuda, I.7
-
28
-
-
13344280345
-
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome
-
Lin Q, Rohrer J, Allen RC et al. A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest 1996; 97:196-201.
-
(1996)
J Clin Invest
, vol.97
, pp. 196-201
-
-
Lin, Q.1
Rohrer, J.2
Allen, R.C.3
-
29
-
-
0032190068
-
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome
-
Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 1998; 92:2421-34.
-
(1998)
Blood
, vol.92
, pp. 2421-2434
-
-
Seyama, K.1
Nonoyama, S.2
Gangsaas, I.3
Hollenbaugh, D.4
Pabst, H.F.5
Aruffo, A.6
Ochs, H.D.7
-
30
-
-
0034652575
-
Lymphocyte subsets and specific T-cell immune response in thalassemia
-
Pattanapanyasat K, Thepthai C, Lamchiagdhase P et al. Lymphocyte subsets and specific T-cell immune response in thalassemia. Cytometry 2000; 42:11-7.
-
(2000)
Cytometry
, vol.42
, pp. 11-17
-
-
Pattanapanyasat, K.1
Thepthai, C.2
Lamchiagdhase, P.3
-
31
-
-
0034927895
-
Ig. heavy-chain gene revision: Leaping towards autoimmunity
-
Klonowski KD, Monestier M. Ig. heavy-chain gene revision: leaping towards autoimmunity. Trends Immunol 2001; 22:400-5.
-
(2001)
Trends Immunol
, vol.22
, pp. 400-405
-
-
Klonowski, K.D.1
Monestier, M.2
-
32
-
-
0035958618
-
Role of receptor editing and revision in shaping the B and T lymphocyte repertoire
-
Kouskoff V, Nemazee D. Role of receptor editing and revision in shaping the B and T lymphocyte repertoire. Life Sci 2001; 69: 1105-13.
-
(2001)
Life Sci
, vol.69
, pp. 1105-1113
-
-
Kouskoff, V.1
Nemazee, D.2
-
33
-
-
0038783610
-
H gene replacement to the primary B cell repertoire
-
H gene replacement to the primary B cell repertoire. Immunity 2003; 19:21-31.
-
(2003)
Immunity
, vol.19
, pp. 21-31
-
-
Zhang, Z.1
Zemlin, M.2
Wang, Y.H.3
-
34
-
-
0034995302
-
Third complementarity-determining region of mutated VH immunoglobulin genes contains shorter V, D, J, P, and N components than non-mutated genes
-
Rosner K, Winter DB, Tarone RE, Skovgaard GL, Bohr VA, Gearhart PJ. Third complementarity-determining region of mutated VH immunoglobulin genes contains shorter V, D, J, P, and N components than non-mutated genes. Immunology 2001; 103:179-87.
-
(2001)
Immunology
, vol.103
, pp. 179-187
-
-
Rosner, K.1
Winter, D.B.2
Tarone, R.E.3
Skovgaard, G.L.4
Bohr, V.A.5
Gearhart, P.J.6
-
35
-
-
0035525780
-
Slow, programmed maturation of the immunoglobulin HCDR3 repertoire during the third trimester of fetal life
-
Schroeder HW, Jr, Zhang L, Philips JB, III. Slow, programmed maturation of the immunoglobulin HCDR3 repertoire during the third trimester of fetal life. Blood 2001; 98:2745-51.
-
(2001)
Blood
, vol.98
, pp. 2745-2751
-
-
Schroeder Jr., H.W.1
Zhang, L.2
Philips III, J.B.3
|