-
1
-
-
0026351311
-
Immunodeficiency with hyper-IgM (HIM)
-
1:STN:280:DyaK383gslGhuw%3D%3D 1554497
-
Notarangelo LD, Duse M, Ugazio AG. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992;3(2):101-21.
-
(1992)
Immunodefic Rev
, vol.3
, Issue.2
, pp. 101-121
-
-
Notarangelo, L.D.1
Duse, M.2
Ugazio, A.G.3
-
2
-
-
72849162727
-
An example of atypical agammaglobulinemia (a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin
-
1:STN:280:DyaF3c%2FgvVGjuw%3D%3D 13689263
-
Burtin P. An example of atypical agammaglobulinemia (a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin. Rev Fr Etud Clin Biol. 1961;6:286-9.
-
(1961)
Rev Fr Etud Clin Biol
, vol.6
, pp. 286-289
-
-
Burtin, P.1
-
3
-
-
0000423229
-
A new biological disorder: Agammaglobulinemia with beta2- macroglobulinemia (a case)
-
1:STN:280:DyaF3c7lvVGqtg%3D%3D 14405968
-
Israel-Asselain R, Burtin P, Chebat J. A new biological disorder: agammaglobulinemia with beta2-macroglobulinemia (a case). Bull Mem Soc Med Hop Paris. 1960;76:519-23.
-
(1960)
Bull Mem Soc Med Hop Paris
, vol.76
, pp. 519-523
-
-
Israel-Asselain, R.1
Burtin, P.2
Chebat, J.3
-
4
-
-
50549187148
-
Dysgammaglobulinaemia and recurrent bacterial infection
-
1:STN:280:DyaF3c%2FmtlShsg%3D%3D 13743325 10.1016/S0140-6736(61)91725-1
-
Rosen FS, Kevy SV, Merler E, Janeway CA, Gitlin D. Dysgammaglobulinaemia and recurrent bacterial infection. Lancet. 1961;1(7179):700.
-
(1961)
Lancet
, vol.1
, Issue.7179
, pp. 700
-
-
Rosen, F.S.1
Kevy, S.V.2
Merler, E.3
Janeway, C.A.4
Gitlin, D.5
-
5
-
-
0027414691
-
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
-
1:CAS:528:DyaK3sXhsVGqs7c%3D 7679801 10.1126/science.7679801
-
Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science. 1993;259(5097):990-3.
-
(1993)
Science
, vol.259
, Issue.5097
, pp. 990-993
-
-
Allen, R.C.1
Armitage, R.J.2
Conley, M.E.3
Rosenblatt, H.4
Jenkins, N.A.5
Copeland, N.G.6
-
6
-
-
0027394391
-
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
-
1:CAS:528:DyaK3sXkvFensrs%3D 7678782 10.1016/0092-8674(93)90668-G
-
Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72(2):291-300.
-
(1993)
Cell
, vol.72
, Issue.2
, pp. 291-300
-
-
Aruffo, A.1
Farrington, M.2
Hollenbaugh, D.3
Li, X.4
Milatovich, A.5
Nonoyama, S.6
-
7
-
-
0027398544
-
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM
-
1:CAS:528:DyaK3sXhsVGqs7s%3D 8094231 10.1038/361541a0
-
DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint BG. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):541-3.
-
(1993)
Nature
, vol.361
, Issue.6412
, pp. 541-543
-
-
Disanto, J.P.1
Bonnefoy, J.Y.2
Gauchat, J.F.3
Fischer, A.4
De Saint, B.G.5
-
8
-
-
0027462664
-
Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM
-
1:CAS:528:DyaK3sXitlais7c%3D 46047 7681587 10.1073/pnas.90.6.2170
-
Fuleihan R, Ramesh N, Loh R, Jabara H, Rosen RS, Chatila T, et al. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci U S A. 1993;90(6):2170-3.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, Issue.6
, pp. 2170-2173
-
-
Fuleihan, R.1
Ramesh, N.2
Loh, R.3
Jabara, H.4
Rosen, R.S.5
Chatila, T.6
-
9
-
-
0027533185
-
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
-
1:STN:280:DyaK3s7ls1yguw%3D%3D 7679206 10.1038/361539a0
-
Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):539-41.
-
(1993)
Nature
, vol.361
, Issue.6412
, pp. 539-541
-
-
Korthauer, U.1
Graf, D.2
Mages, H.W.3
Briere, F.4
Padayachee, M.5
Malcolm, S.6
-
10
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
1:CAS:528:DC%2BD3MXhslOjs7k%3D 11242109 10.1038/85837
-
Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27(3):277-85.
-
(2001)
Nat Genet
, vol.27
, Issue.3
, pp. 277-285
-
-
Doffinger, R.1
Smahi, A.2
Bessia, C.3
Geissmann, F.4
Feinberg, J.5
Durandy, A.6
-
11
-
-
0035286726
-
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
-
1:CAS:528:DC%2BD3MXhvVWisLg%3D 11224521 10.1038/85277
-
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(3):223-8.
-
(2001)
Nat Immunol
, vol.2
, Issue.3
, pp. 223-228
-
-
Jain, A.1
Ma, C.A.2
Liu, S.3
Brown, M.4
Cohen, J.5
Strober, W.6
-
12
-
-
0034264851
-
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
-
1:CAS:528:DC%2BD3cXmsFWit7k%3D 11007475 10.1016/S0092-8674(00)00079-9
-
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000;102(5):565-75.
-
(2000)
Cell
, vol.102
, Issue.5
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
Geissmann, F.4
Plebani, A.5
Sanal, O.6
-
13
-
-
0142092610
-
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
-
1:CAS:528:DC%2BD3sXnsF2murc%3D 12958596 10.1038/ni974
-
Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol. 2003;4(10):1023-8.
-
(2003)
Nat Immunol
, vol.4
, Issue.10
, pp. 1023-1028
-
-
Imai, K.1
Slupphaug, G.2
Lee, W.I.3
Revy, P.4
Nonoyama, S.5
Catalan, N.6
-
14
-
-
58149165112
-
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
-
1:CAS:528:DC%2BD1cXhtlWnt7fP 2571921 18824584 10.1084/jem.20080789
-
Peron S, Metin A, Gardes P, Alyanakian MA, Sheridan E, Kratz CP, et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med. 2008;205(11):2465-72.
-
(2008)
J Exp Med
, vol.205
, Issue.11
, pp. 2465-2472
-
-
Peron, S.1
Metin, A.2
Gardes, P.3
Alyanakian, M.A.4
Sheridan, E.5
Kratz, C.P.6
-
15
-
-
14944385521
-
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
-
1:CAS:528:DC%2BD2MXitVOns7w%3D 15358621 10.1182/blood-2003-12-4420
-
Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood. 2005;105(5):1881-90.
-
(2005)
Blood
, vol.105
, Issue.5
, pp. 1881-1890
-
-
Lee, W.I.1
Torgerson, T.R.2
Schumacher, M.J.3
Yel, L.4
Zhu, Q.5
Ochs, H.D.6
-
16
-
-
33646942168
-
Defects of class-switch recombination
-
1:CAS:528:DC%2BD28XjslelsLk%3D 16630945 10.1016/j.jaci.2006.01.043
-
Notarangelo LD, Lanzi G, Peron S, Durandy A. Defects of class-switch recombination. J Allergy Clin Immunol. 2006;117(4):855-64.
-
(2006)
J Allergy Clin Immunol
, vol.117
, Issue.4
, pp. 855-864
-
-
Notarangelo, L.D.1
Lanzi, G.2
Peron, S.3
Durandy, A.4
-
17
-
-
84857797490
-
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis
-
22154528 10.1016/j.jaci.2011.10.026
-
Cabral-Marques O, Arslanian C, Ramos RN, Morato M, Schimke L, Soeiro Pereira PV, et al. Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis. J Allergy Clin Immunol. 2012;129(3):778-86.
-
(2012)
J Allergy Clin Immunol
, vol.129
, Issue.3
, pp. 778-786
-
-
Cabral-Marques, O.1
Arslanian, C.2
Ramos, R.N.3
Morato, M.4
Schimke, L.5
Soeiro Pereira, P.V.6
-
18
-
-
0033560934
-
Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome
-
1:CAS:528:DyaK1MXis1Gnsb0%3D 408278 10207167 10.1172/JCI5891
-
Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999;103(8):1151-8.
-
(1999)
J Clin Invest
, vol.103
, Issue.8
, pp. 1151-1158
-
-
Jain, A.1
Atkinson, T.P.2
Lipsky, P.E.3
Slater, J.E.4
Nelson, D.L.5
Strober, W.6
-
19
-
-
0345276650
-
The X-linked hyper-IgM syndrome: Clinical and immunologic features of 79 patients
-
1:CAS:528:DC%2BD3sXps1ShsL8%3D 10.1097/01.md.0000100046.06009.b0
-
Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82(6):373-84.
-
(2003)
Medicine (Baltimore)
, vol.82
, Issue.6
, pp. 373-384
-
-
Winkelstein, J.A.1
Marino, M.C.2
Ochs, H.3
Fuleihan, R.4
Scholl, P.R.5
Geha, R.6
-
20
-
-
84863559457
-
Expanding the clinical and genetic spectrum of human CD40L deficiency: The occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients
-
22193914 10.1007/s10875-011-9623-6
-
Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, et al. Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients. J Clin Immunol. 2012;32(2):212-20.
-
(2012)
J Clin Immunol
, vol.32
, Issue.2
, pp. 212-220
-
-
Cabral-Marques, O.1
Schimke, L.F.2
Pereira, P.V.3
Falcai, A.4
De Oliveira, J.B.5
Hackett, M.J.6
-
21
-
-
10744226125
-
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
-
1:CAS:528:DC%2BD2cXhtV2htbk%3D 14962793 10.1016/j.clim.2003.10.007
-
Quartier P, Bustamante J, Sanal O, Plebani A, Debre M, Deville A, 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(1):22-9.
-
(2004)
Clin Immunol
, vol.110
, Issue.1
, pp. 22-29
-
-
Quartier, P.1
Bustamante, J.2
Sanal, O.3
Plebani, A.4
Debre, M.5
Deville, A.6
-
22
-
-
0032190068
-
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome
-
1:CAS:528:DyaK1cXmsVKns7o%3D 9746782
-
Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, et al. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood. 1998;92(7):2421-34.
-
(1998)
Blood
, vol.92
, Issue.7
, pp. 2421-2434
-
-
Seyama, K.1
Nonoyama, S.2
Gangsaas, I.3
Hollenbaugh, D.4
Pabst, H.F.5
Aruffo, A.6
-
23
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
10.1002/(SICI)1098-1004(200001)15:1<7: AID-HUMU4>3.0.CO;2-N
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15(1):7-12.
-
(2000)
Hum Mutat
, vol.15
, Issue.1
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
24
-
-
79955001682
-
Describing structural changes by extending HGVS sequence variation nomenclature
-
1:CAS:528:DC%2BC3MXltVSqsL8%3D 21309030 10.1002/humu.21427
-
Taschner PE, den Dunnen JT. Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat. 2011;32(5):507-11.
-
(2011)
Hum Mutat
, vol.32
, Issue.5
, pp. 507-511
-
-
Taschner, P.E.1
Den Dunnen, J.T.2
-
25
-
-
34250164673
-
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants
-
1:CAS:528:DC%2BD2sXmtlGku7o%3D 17351759 10.1007/s10875-007-9089-8
-
Danielian S, Oleastro M, Eva Rivas M, Cantisano C, Zelazko M. Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants. J Clin Immunol. 2007;27(4):455-9.
-
(2007)
J Clin Immunol
, vol.27
, Issue.4
, pp. 455-459
-
-
Danielian, S.1
Oleastro, M.2
Eva Rivas, M.3
Cantisano, C.4
Zelazko, M.5
-
26
-
-
84898853603
-
Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome
-
Sep 10
-
Vargas-Hernandez A, Berron-Ruiz L, Staines-Boone T, Zarate-Hernandez M, Cordova-Calderon W, Espinosa-Rosales F, et al. Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome. Clin Genet. 2012 Sep 10.
-
(2012)
Clin Genet
-
-
Vargas-Hernandez, A.1
Berron-Ruiz, L.2
Staines-Boone, T.3
Zarate-Hernandez, M.4
Cordova-Calderon, W.5
Espinosa-Rosales, F.6
-
27
-
-
13344280345
-
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome
-
1:CAS:528:DyaK28Xhtlaisrw%3D 507079 8550833 10.1172/JCI118389
-
Lin Q, Rohrer J, Allen RC, Larche M, Greene JM, Shigeoka AO, 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(1):196-201.
-
(1996)
J Clin Invest
, vol.97
, Issue.1
, pp. 196-201
-
-
Lin, Q.1
Rohrer, J.2
Allen, R.C.3
Larche, M.4
Greene, J.M.5
Shigeoka, A.O.6
-
28
-
-
0028901954
-
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry
-
1:CAS:528:DyaK2MXlt1eltr8%3D 1801196 7717401
-
Macchi P, Villa A, Strina D, Sacco MG, Morali F, Brugnoni D, et al. Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am J Hum Genet. 1995;56(4):898-906.
-
(1995)
Am J Hum Genet
, vol.56
, Issue.4
, pp. 898-906
-
-
Macchi, P.1
Villa, A.2
Strina, D.3
Sacco, M.G.4
Morali, F.5
Brugnoni, D.6
-
29
-
-
11244339738
-
Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives
-
1:CAS:528:DC%2BD2MXhtFalu7c%3D 1770534 15623492 10.1136/jcp.2004.019711
-
Prasad ML, Velickovic M, Weston SA, Benson EM. Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives. J Clin Pathol. 2005;58(1):90-2.
-
(2005)
J Clin Pathol
, vol.58
, Issue.1
, pp. 90-92
-
-
Prasad, M.L.1
Velickovic, M.2
Weston, S.A.3
Benson, E.M.4
-
30
-
-
84864984739
-
A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants
-
1:CAS:528:DC%2BC38XhtFOksbnJ 3431652 22715099 10.1074/jbc.M112.370189
-
Mu Y, Prochnow C, Pham P, Chen XS, Goodman MF. A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants. J Biol Chem. 2012;287(33):28007- 16.
-
(2012)
J Biol Chem
, vol.287
, Issue.33
, pp. 28007-28016
-
-
Mu, Y.1
Prochnow, C.2
Pham, P.3
Chen, X.S.4
Goodman, M.F.5
-
31
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
1:STN:280:DyaK2szpvFSlsA%3D%3D 9255191 10.1016/S0022-3476(97)70123-9
-
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131(1 Pt 1):47-54.
-
(1997)
J Pediatr
, vol.131
, Issue.1
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
Fischer, A.4
Tovo, P.5
Bordigoni, P.6
-
32
-
-
0033669973
-
Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
-
1:CAS:528:DC%2BD3MXkvVKhsQ%3D%3D 11112359 10.1006/clim.2000.4956
-
Minegishi Y, Lavoie A, Cunningham-Rundles C, Bedard PM, Hebert J, Cote L, et al. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin Immunol. 2000;97(3):203-10.
-
(2000)
Clin Immunol
, vol.97
, Issue.3
, pp. 203-210
-
-
Minegishi, Y.1
Lavoie, A.2
Cunningham-Rundles, C.3
Bedard, P.M.4
Hebert, J.5
Cote, L.6
-
33
-
-
0035940417
-
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
-
1:CAS:528:DC%2BD3MXotFaiurY%3D 60102 11675497 10.1073/pnas.221456898
-
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98(22):12614-9.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, Issue.22
, pp. 12614-12619
-
-
Ferrari, S.1
Giliani, S.2
Insalaco, A.3
Al-Ghonaium, A.4
Soresina, A.R.5
Loubser, M.6
-
34
-
-
84860580633
-
Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives
-
1:STN:280:DC%2BC38vpt1GnsA%3D%3D 10.1016/j.aller.2012.01.003
-
Condino-Neto A, Franco JL, Espinosa-Rosales FJ, Leiva LE, King A, Porras O, et al. Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives. Allergol Immunopathol (Madr). 2012;40(3):187-93.
-
(2012)
Allergol Immunopathol (Madr)
, vol.40
, Issue.3
, pp. 187-193
-
-
Condino-Neto, A.1
Franco, J.L.2
Espinosa-Rosales, F.J.3
Leiva, L.E.4
King, A.5
Porras, O.6
-
35
-
-
79251624871
-
Critical issues and needs in management of primary immunodeficiency diseases in Latin America
-
1:STN:280:DC%2BC3M7lt1OjsA%3D%3D 10.1016/j.aller.2010.09.001
-
Condino-Neto A, Franco JL, Trujillo-Vargas C, Espinosa-Rosales FJ, Leiva LE, Rodriguez-Quiroz F, et al. Critical issues and needs in management of primary immunodeficiency diseases in Latin America. Allergol Immunopathol (Madr). 2011;39(1):45-51.
-
(2011)
Allergol Immunopathol (Madr)
, vol.39
, Issue.1
, pp. 45-51
-
-
Condino-Neto, A.1
Franco, J.L.2
Trujillo-Vargas, C.3
Espinosa-Rosales, F.J.4
Leiva, L.E.5
Rodriguez-Quiroz, F.6
-
36
-
-
1142310694
-
Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes)
-
1:CAS:528:DC%2BD2cXivFCju78%3D 14975260 10.1016/S0065-2776(04)82007-8
-
Durandy A, Revy P, Fischer A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv Immunol. 2004;82:295-330.
-
(2004)
Adv Immunol
, vol.82
, pp. 295-330
-
-
Durandy, A.1
Revy, P.2
Fischer, A.3
-
37
-
-
34548260858
-
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome
-
1:CAS:528:DC%2BD2sXpsl2hsLo%3D 17553565 10.1016/j.molimm.2007.04.014
-
Erdos M, Lakos G, Derfalvi B, Notarangelo LD, Durandy A, Marodi L. Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. Mol Immunol. 2008;45(1):278-82.
-
(2008)
Mol Immunol
, vol.45
, Issue.1
, pp. 278-282
-
-
Erdos, M.1
Lakos, G.2
Derfalvi, B.3
Notarangelo, L.D.4
Durandy, A.5
Marodi, L.6
-
38
-
-
84865390244
-
Diarrhea in the immunocompromised patient
-
22917171 10.1016/j.gtc.2012.06.009
-
Krones E, Hogenauer C. Diarrhea in the immunocompromised patient. Gastroenterol Clin North Am. 2012;41(3):677-701.
-
(2012)
Gastroenterol Clin North Am
, vol.41
, Issue.3
, pp. 677-701
-
-
Krones, E.1
Hogenauer, C.2
-
39
-
-
84867077292
-
Infections associated with chronic granulomatous disease: Linking genetics to phenotypic expression
-
1:CAS:528:DC%2BC38XhsVehsr3P 23030328 10.1586/eri.12.77
-
Ben-Ari J, Wolach O, Gavrieli R, Wolach B. Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression. Expert Rev Anti Infect Ther. 2012;10(8):881-94.
-
(2012)
Expert Rev Anti Infect Ther
, vol.10
, Issue.8
, pp. 881-894
-
-
Ben-Ari, J.1
Wolach, O.2
Gavrieli, R.3
Wolach, B.4
-
40
-
-
0015610118
-
Mycoplasma pneumoniae infections in patients with immunodeficiency syndromes: Report of four cases
-
1:STN:280:DyaE3s7kvVGqsQ%3D%3D 4694545 10.1093/infdis/127.4.388
-
Foy HM, Ochs H, Davis SD, Kenny GE, Luce RR. Mycoplasma pneumoniae infections in patients with immunodeficiency syndromes: report of four cases. J Infect Dis. 1973;127(4):388-93.
-
(1973)
J Infect Dis
, vol.127
, Issue.4
, pp. 388-393
-
-
Foy, H.M.1
Ochs, H.2
Davis, S.D.3
Kenny, G.E.4
Luce, R.R.5
-
41
-
-
0027321456
-
Unique susceptibility of patients with antibody deficiency to mycoplasma infection
-
8399924
-
Gelfand EW. Unique susceptibility of patients with antibody deficiency to mycoplasma infection. Clin Infect Dis. 1993;17 Suppl 1:S250-3.
-
(1993)
Clin Infect Dis
, vol.17
, Issue.SUPPL. 1
-
-
Gelfand, E.W.1
-
42
-
-
84866133467
-
Aspergillus nidulans and chronic granulomatous disease: A unique host-pathogen interaction
-
1:CAS:528:DC%2BC38XhtlCru7bF 22829648 10.1093/infdis/jis473
-
Henriet SS, Verweij PE, Warris A. Aspergillus nidulans and chronic granulomatous disease: a unique host-pathogen interaction. J Infect Dis. 2012;206(7):1128-37.
-
(2012)
J Infect Dis
, vol.206
, Issue.7
, pp. 1128-1137
-
-
Henriet, S.S.1
Verweij, P.E.2
Warris, A.3
-
43
-
-
0034530912
-
Fatal aspergillosis with brain abscesses in a neonate with DiGeorge syndrome
-
1:STN:280:DC%2BD3MzitV2ltw%3D%3D 11144390 10.1097/00006454-200012000- 00023
-
Marcinkowski M, Bauer K, Stoltenburg-Didinger G, Vogel M, Versmold H. Fatal aspergillosis with brain abscesses in a neonate with DiGeorge syndrome. Pediatr Infect Dis J. 2000;19(12):1214-6.
-
(2000)
Pediatr Infect Dis J
, vol.19
, Issue.12
, pp. 1214-1216
-
-
Marcinkowski, M.1
Bauer, K.2
Stoltenburg-Didinger, G.3
Vogel, M.4
Versmold, H.5
-
44
-
-
84872338248
-
Common variable immunodeficiency and isosporiasis: First report case
-
Silva GB, Fernandes KP, Segundo GR. Common variable immunodeficiency and isosporiasis: first report case. Rev Soc Bras Med Trop. 45(6):768-9.
-
Rev Soc Bras Med Trop
, vol.45
, Issue.6
, pp. 768-769
-
-
Silva, G.B.1
Kp, F.2
Segundo, G.R.3
-
45
-
-
0031914823
-
Pulmonary aspergillosis in a child with hyperimmunoglobulin e syndrome
-
1:STN:280:DyaK1c7hs1Ohtg%3D%3D 9455546 10.1086/516254
-
Wolach B, Eliakim A, Gottesman G, Yellin A. Pulmonary aspergillosis in a child with hyperimmunoglobulin E syndrome. Clin Infect Dis. 1998;26(1):204-5.
-
(1998)
Clin Infect Dis
, vol.26
, Issue.1
, pp. 204-205
-
-
Wolach, B.1
Eliakim, A.2
Gottesman, G.3
Yellin, A.4
-
46
-
-
0036707986
-
Successful transplantation of haploidentical CD34+ selected bone marrow cells for an infantile case of severe combined immunodeficiency with aspergillus pneumonia
-
12186368 10.1080/08880010290097215
-
Yoshihara T, Morimoto A, Nakauchi S, Fujii N, Tsunamoto K, Misawa A, et al. Successful transplantation of haploidentical CD34+ selected bone marrow cells for an infantile case of severe combined immunodeficiency with aspergillus pneumonia. Pediatr Hematol Oncol. 2002;19(6):439-43.
-
(2002)
Pediatr Hematol Oncol
, vol.19
, Issue.6
, pp. 439-443
-
-
Yoshihara, T.1
Morimoto, A.2
Nakauchi, S.3
Fujii, N.4
Tsunamoto, K.5
Misawa, A.6
-
47
-
-
0033152563
-
CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: Patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer
-
1:CAS:528:DyaK1MXjtlKitLs%3D 10352287
-
Subauste CS, Wessendarp M, Sorensen RU, Leiva LE. CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer. J Immunol. 1999;162(11):6690-700.
-
(1999)
J Immunol
, vol.162
, Issue.11
, pp. 6690-6700
-
-
Subauste, C.S.1
Wessendarp, M.2
Sorensen, R.U.3
Leiva, L.E.4
-
48
-
-
10744228754
-
Functional defects of dendritic cells in patients with CD40 deficiency
-
1:CAS:528:DC%2BD3sXpsFals7w%3D 12893749 10.1182/blood-2003-04-1244
-
Fontana S, Moratto D, Mangal S, De Francesco M, Vermi W, Ferrari S, et al. Functional defects of dendritic cells in patients with CD40 deficiency. Blood. 2003;102(12):4099-106.
-
(2003)
Blood
, vol.102
, Issue.12
, pp. 4099-4106
-
-
Fontana, S.1
Moratto, D.2
Mangal, S.3
De Francesco, M.4
Vermi, W.5
Ferrari, S.6
-
49
-
-
0031821822
-
Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome
-
1:STN:280:DyaK1czmtFWktw%3D%3D 9697710 10.1086/515633
-
Seyama K, Kobayashi R, Hasle H, Apter AJ, Rutledge JC, Rosen D, et al. Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome. J Infect Dis. 1998;178(2):318-24.
-
(1998)
J Infect Dis
, vol.178
, Issue.2
, pp. 318-324
-
-
Seyama, K.1
Kobayashi, R.2
Hasle, H.3
Apter, A.J.4
Rutledge, J.C.5
Rosen, D.6
-
50
-
-
77951623928
-
Hematopoietic stem cell transplantation: A global perspective
-
1:CAS:528:DC%2BC3cXlsV2mur0%3D 3219875 20424252 10.1001/jama.2010.491
-
Gratwohl A, Baldomero H, Aljurf M, Pasquini MC, Bouzas LF, Yoshimi A, et al. Hematopoietic stem cell transplantation: a global perspective. JAMA. 2010;303(16):1617-24.
-
(2010)
JAMA
, vol.303
, Issue.16
, pp. 1617-1624
-
-
Gratwohl, A.1
Baldomero, H.2
Aljurf, M.3
Pasquini, M.C.4
Bouzas, L.F.5
Yoshimi, A.6
-
51
-
-
33645984272
-
Response to polysaccharide antigens in patients with ataxia- telangiectasia
-
Guerra-Maranhao MC, Costa-Carvalho BT, Nudelman V, Barros-Nunes P, Carneiro-Sampaio MM, Arslanian C, et al. Response to polysaccharide antigens in patients with ataxia-telangiectasia. J Pediatr (Rio J). 2006;82(2):132-6.
-
(2006)
J Pediatr (Rio J)
, vol.82
, Issue.2
, pp. 132-136
-
-
Guerra-Maranhao, M.C.1
Costa-Carvalho, B.T.2
Nudelman, V.3
Barros-Nunes, P.4
Carneiro-Sampaio, M.M.5
Arslanian, C.6
|