-
1
-
-
84857728623
-
Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) expert committee on primary immunodeficiency 2011
-
10.1111/j.1365-2249.2012.04561.x, 22385238
-
Chapel H. Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) expert committee on primary immunodeficiency 2011. Clin Exp Immunol 2012, 168(1):58-59. 10.1111/j.1365-2249.2012.04561.x, 22385238.
-
(2012)
Clin Exp Immunol
, vol.168
, Issue.1
, pp. 58-59
-
-
Chapel, H.1
-
2
-
-
7844233863
-
-
Amsterdam: Excerpta Medica
-
Griscelli C, Fischer A, Grospierre B, Durandy A, Bremard C, Charron D, Vilmer E, Virelizier J-L. Clinical and immunological aspects of combined immunodeficiency with defective expression of HLA antigens 1984, Amsterdam: Excerpta Medica.
-
(1984)
Clinical and immunological aspects of combined immunodeficiency with defective expression of HLA antigens
-
-
Griscelli, C.1
Fischer, A.2
Grospierre, B.3
Durandy, A.4
Bremard, C.5
Charron, D.6
Vilmer, E.7
Virelizier, J.-L.8
-
3
-
-
0000014141
-
Combined immunodeficiency with defective expression in MHC class II genes
-
Chur, Switzerland: Harwood Academic, Rosen FS, Seligman M
-
Griscelli C, Lisowska-Grospierre B, Mach B, et al. Combined immunodeficiency with defective expression in MHC class II genes. Immunodeficiencies 1993, 141. Chur, Switzerland: Harwood Academic, Rosen FS, Seligman M.
-
(1993)
Immunodeficiencies
, pp. 141
-
-
Griscelli, C.1
Lisowska-Grospierre, B.2
Mach, B.3
-
4
-
-
0031055891
-
RFXAP, a novel subunit of the RFX DNA binding complex, is mutated in MHC class II deficiency
-
10.1093/emboj/16.5.1045, 1169704, 9118943
-
Durand B, Sperisen P, Emery P, et al. RFXAP, a novel subunit of the RFX DNA binding complex, is mutated in MHC class II deficiency. EMBO J 1997, 16:1045-1055. 10.1093/emboj/16.5.1045, 1169704, 9118943.
-
(1997)
EMBO J
, vol.16
, pp. 1045-1055
-
-
Durand, B.1
Sperisen, P.2
Emery, P.3
-
5
-
-
0004419978
-
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
-
10.1038/3081, 9806546
-
Masternak K, Barras E, Zufferey M, et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet 1998, 20:273-277. 10.1038/3081, 9806546.
-
(1998)
Nat Genet
, vol.20
, pp. 273-277
-
-
Masternak, K.1
Barras, E.2
Zufferey, M.3
-
6
-
-
11944266638
-
A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
-
10.1101/gad.9.9.1021, 7744245
-
Steimle V, Durand B, Barras E, et al. A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev 1995, 9:1021-1032. 10.1101/gad.9.9.1021, 7744245.
-
(1995)
Genes Dev
, vol.9
, pp. 1021-1032
-
-
Steimle, V.1
Durand, B.2
Barras, E.3
-
7
-
-
0027490172
-
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
-
Steimle V, Otten LA, Zufferey M, Mach B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 1993, 75:135-146.
-
(1993)
Cell
, vol.75
, pp. 135-146
-
-
Steimle, V.1
Otten, L.A.2
Zufferey, M.3
Mach, B.4
-
8
-
-
7144261730
-
Genetic and molecular definition of complementation group D in MHC class II deficiency
-
10.1093/hmg/7.5.879, 9536093
-
Fondaneche MC, Villard J, Wiszniewski W, et al. Genetic and molecular definition of complementation group D in MHC class II deficiency. Hum Mol Genet 1998, 7:879-885. 10.1093/hmg/7.5.879, 9536093.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 879-885
-
-
Fondaneche, M.C.1
Villard, J.2
Wiszniewski, W.3
-
9
-
-
0024366508
-
Congenital immunodeficiency associated with absence of HLA class II antigens on lymphocyte result from distinct mutations in transacting factors
-
10.1016/0198-8859(89)90007-4, 2511169
-
Hume CR, Lee JS. Congenital immunodeficiency associated with absence of HLA class II antigens on lymphocyte result from distinct mutations in transacting factors. Hum Immunol 1989, 26:288-309. 10.1016/0198-8859(89)90007-4, 2511169.
-
(1989)
Hum Immunol
, vol.26
, pp. 288-309
-
-
Hume, C.R.1
Lee, J.S.2
-
10
-
-
33644932200
-
Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease
-
Krawczyk M, Reith W. Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease. J Compilation 2006, 67:183-197.
-
(2006)
J Compilation
, vol.67
, pp. 183-197
-
-
Krawczyk, M.1
Reith, W.2
-
11
-
-
0028307669
-
Two complementation groups accent for most cases of inherited MHC class II deficiency
-
10.1093/hmg/3.6.953, 7951244
-
Lisowska-Grospierre B, Fondaneche MC, Rols MP, et al. Two complementation groups accent for most cases of inherited MHC class II deficiency. Hum Mol Genet 1994, 3:953-958. 10.1093/hmg/3.6.953, 7951244.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 953-958
-
-
Lisowska-Grospierre, B.1
Fondaneche, M.C.2
Rols, M.P.3
-
12
-
-
0024290444
-
Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X
-
10.1016/S0092-8674(88)90389-3, 3133120
-
Reith W, Satola S, Sanchez CH, et al. Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X. Cell 1988, 53:897-906. 10.1016/S0092-8674(88)90389-3, 3133120.
-
(1988)
Cell
, vol.53
, pp. 897-906
-
-
Reith, W.1
Satola, S.2
Sanchez, C.H.3
-
13
-
-
0034194473
-
CIITA is a transcriptional coactivator that is recruited to MHC II promoters by multiple synergistic interactions with an enhanceosome complex
-
316580, 10809673
-
Masternak K, Muhlethaler-Mottet A, Villard J, et al. CIITA is a transcriptional coactivator that is recruited to MHC II promoters by multiple synergistic interactions with an enhanceosome complex. Genes Dev 2000, 14:1156-1166. 316580, 10809673.
-
(2000)
Genes Dev
, vol.14
, pp. 1156-1166
-
-
Masternak, K.1
Muhlethaler-Mottet, A.2
Villard, J.3
-
14
-
-
0028142430
-
Regulation of MHC class II expression by interferon mediated by the transactivator gene CIITA
-
10.1126/science.8016643, 8016643
-
Steimle V, Siegrist CA, Mottet A, et al. Regulation of MHC class II expression by interferon mediated by the transactivator gene CIITA. Science 1994, 265:106-109. 10.1126/science.8016643, 8016643.
-
(1994)
Science
, vol.265
, pp. 106-109
-
-
Steimle, V.1
Siegrist, C.A.2
Mottet, A.3
-
15
-
-
0027446688
-
Major histocompatibility complex class II deficiency: clinical manifestations, immunological features and outcome
-
10.1016/S0022-3476(05)80388-9, 8229525
-
Klein C, Lisowska-Grospierre B, Ledeist F, et al. Major histocompatibility complex class II deficiency: clinical manifestations, immunological features and outcome. J Pediatr 1993, 123(6):921-928. 10.1016/S0022-3476(05)80388-9, 8229525.
-
(1993)
J Pediatr
, vol.123
, Issue.6
, pp. 921-928
-
-
Klein, C.1
Lisowska-Grospierre, B.2
Ledeist, F.3
-
16
-
-
81055126777
-
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients
-
10.1182/blood-2011-05-352716, 21908431
-
Ouederni M, Vincent QB, Frange P, et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 2011, 118(19):5108-5118. 10.1182/blood-2011-05-352716, 21908431.
-
(2011)
Blood
, vol.118
, Issue.19
, pp. 5108-5118
-
-
Ouederni, M.1
Vincent, Q.B.2
Frange, P.3
-
17
-
-
0032879799
-
Primary immunodeficiency diseases
-
1905383, 10540200, Report of an IUIS Scientific Group
-
Report of an IUIS Scientific Group Primary immunodeficiency diseases. Clin Exp Immunol 1999, 118(suppl 1):1-28. 1905383, 10540200, Report of an IUIS Scientific Group.
-
(1999)
Clin Exp Immunol
, vol.118
, Issue.SUPPL. 1
, pp. 1-28
-
-
-
18
-
-
0034072751
-
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II deficient patients belonging to complementation group B
-
10.1007/s002510050619, 10803838
-
Wiszniewski W, Fondaneche MC, Lambert N, et al. Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II deficient patients belonging to complementation group B. Immunogenetics 2000, 51:261-267. 10.1007/s002510050619, 10803838.
-
(2000)
Immunogenetics
, vol.51
, pp. 261-267
-
-
Wiszniewski, W.1
Fondaneche, M.C.2
Lambert, N.3
-
19
-
-
0033083748
-
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency
-
10.1016/S1074-7613(00)80016-3, 10072068
-
Nagarajan UM, Louis-Plence P, DeSandro A, et al. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity 1999, 10:153-162. 10.1016/S1074-7613(00)80016-3, 10072068.
-
(1999)
Immunity
, vol.10
, pp. 153-162
-
-
Nagarajan, U.M.1
Louis-Plence, P.2
DeSandro, A.3
-
20
-
-
0242550686
-
Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study
-
10.1016/j.jaci.2003.07.003, 14610491
-
Shearer WT, Rosenblatt HM, Gelman RS, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol 2003, 112(5):973-980. 10.1016/j.jaci.2003.07.003, 14610491.
-
(2003)
J Allergy Clin Immunol
, vol.112
, Issue.5
, pp. 973-980
-
-
Shearer, W.T.1
Rosenblatt, H.M.2
Gelman, R.S.3
-
21
-
-
0026042179
-
Combined immunodeficiency with defective expression in MHC class II genes
-
Griscelli C. Combined immunodeficiency with defective expression in MHC class II genes. Clin Immunol Immunopathol 1991, 61:106-110.
-
(1991)
Clin Immunol Immunopathol
, vol.61
, pp. 106-110
-
-
Griscelli, C.1
-
22
-
-
0031228394
-
Les déficits immunitaires primitifs en Tunisie; étude de 152 cas
-
10.1016/S0929-693X(97)88145-6, 9345562
-
Bejaoui M, Barbouche MR, Dellagi K. Les déficits immunitaires primitifs en Tunisie; étude de 152 cas. Arch Pediatr 1997, 4:827-831. 10.1016/S0929-693X(97)88145-6, 9345562.
-
(1997)
Arch Pediatr
, vol.4
, pp. 827-831
-
-
Bejaoui, M.1
Barbouche, M.R.2
Dellagi, K.3
-
23
-
-
0021439010
-
Consanguinité et santé publique, étude algérienne
-
Benallegue M, Kedjif F. Consanguinité et santé publique, étude algérienne. Arch Fr Pédiatr 1984, 41:435-440.
-
(1984)
Arch Fr Pédiatr
, vol.41
, pp. 435-440
-
-
Benallegue, M.1
Kedjif, F.2
-
24
-
-
78149470720
-
Epidémiologie et classification des déficits immunitaires primitifs
-
Bousfiha AA, Ailal F, Picard C, et al. Epidémiologie et classification des déficits immunitaires primitifs. Rev Mar Mal Enf 2008, 18:5-11.
-
(2008)
Rev Mar Mal Enf
, vol.18
, pp. 5-11
-
-
Bousfiha, A.A.1
Ailal, F.2
Picard, C.3
-
25
-
-
2342563436
-
Consanguinité et Santé publique au Maroc
-
Lamdaouer Bouazzaoui N. Consanguinité et Santé publique au Maroc. Bull Acad Natl Med 1994, 178:1013-1027.
-
(1994)
Bull Acad Natl Med
, vol.178
, pp. 1013-1027
-
-
Lamdaouer Bouazzaoui, N.1
-
26
-
-
0024571728
-
Combined immunodeficiency with abnormal expression of MHC class II genes
-
10.1016/0090-1229(89)90121-9, 2463126
-
Griscelli C, Lisowska-Grospierre B, Le Deist F, et al. Combined immunodeficiency with abnormal expression of MHC class II genes. Clin Immunol Immunopathol 1989, 50:S140-S148. 10.1016/0090-1229(89)90121-9, 2463126.
-
(1989)
Clin Immunol Immunopathol
, vol.50
-
-
Griscelli, C.1
Lisowska-Grospierre, B.2
Le Deist, F.3
-
27
-
-
0032440627
-
Déficit immunitaire primitif par défaut d'expression des antigènes de classe II: neuf observations tunisiennes
-
10.1016/S0929-693X(99)80005-0, 9809151
-
Bejaoui M, Barbouche MR, Mellouli F, et al. Déficit immunitaire primitif par défaut d'expression des antigènes de classe II: neuf observations tunisiennes. Arch Pediatr 1998, 5:1089-1093. 10.1016/S0929-693X(99)80005-0, 9809151.
-
(1998)
Arch Pediatr
, vol.5
, pp. 1089-1093
-
-
Bejaoui, M.1
Barbouche, M.R.2
Mellouli, F.3
-
28
-
-
0033807808
-
Clinical course of patients with major histocompatibility complex class II deficiency
-
10.1136/adc.83.4.356, 1718526, 10999878
-
Saleem MA, Arkwright PD, Davies EG, et al. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child 2000, 83:356-359. 10.1136/adc.83.4.356, 1718526, 10999878.
-
(2000)
Arch Dis Child
, vol.83
, pp. 356-359
-
-
Saleem, M.A.1
Arkwright, P.D.2
Davies, E.G.3
-
29
-
-
0034932943
-
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome
-
10.1128/MCB.21.16.5566-5576.2001, 87278, 11463838
-
Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM. Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. Mol Cell Biol 2001, 21:5566-5576. 10.1128/MCB.21.16.5566-5576.2001, 87278, 11463838.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 5566-5576
-
-
Nekrep, N.1
Geyer, M.2
Jabrane-Ferrat, N.3
Peterlin, B.M.4
-
30
-
-
0035341115
-
Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency
-
Lennon-Dumenil AM, Barbouche MR, Vedrenne J, et al. Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. J Immunol 2001, 166:5681-5687.
-
(2001)
J Immunol
, vol.166
, pp. 5681-5687
-
-
Lennon-Dumenil, A.M.1
Barbouche, M.R.2
Vedrenne, J.3
-
31
-
-
0034176748
-
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-Bdeficient cells
-
Nagarajan UM, Peijnenburg A, Gobin SJ, et al. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-Bdeficient cells. J Immunol 2000, 164:3666-3674.
-
(2000)
J Immunol
, vol.164
, pp. 3666-3674
-
-
Nagarajan, U.M.1
Peijnenburg, A.2
Gobin, S.J.3
-
32
-
-
0344082092
-
Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course
-
10.1007/s00251-003-0609-2, 14574520
-
Prod'homme T, Dekel B, Barbieri G, et al. Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course. Immunogenetics 2003, 55:530-539. 10.1007/s00251-003-0609-2, 14574520.
-
(2003)
Immunogenetics
, vol.55
, pp. 530-539
-
-
Prod'homme, T.1
Dekel, B.2
Barbieri, G.3
-
33
-
-
0037304181
-
Novel mutations in the RFXANK gene: RFX complex containing in vitro-generated RFXANK mutant binds the promoter without transactivating MHC II
-
Wiszniewski W, Fondaneche MC, Louise-Plence P, et al. Novel mutations in the RFXANK gene: RFX complex containing in vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. Immunogenetics 2003, 54:747-755.
-
(2003)
Immunogenetics
, vol.54
, pp. 747-755
-
-
Wiszniewski, W.1
Fondaneche, M.C.2
Louise-Plence, P.3
-
34
-
-
79952111520
-
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population
-
Naamane H, El Maataoui O, Ailal F, et al. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr 2010,
-
(2010)
Eur J Pediatr
-
-
Naamane, H.1
El Maataoui, O.2
Ailal, F.3
-
35
-
-
0035424169
-
Mutation in the class II trans-activator leading to a mild immunodeficiency
-
Wiszniewski W, Fondaneche MC, Le Deist F, et al. Mutation in the class II trans-activator leading to a mild immunodeficiency. J Immunol 2001, 167:1787-1794.
-
(2001)
J Immunol
, vol.167
, pp. 1787-1794
-
-
Wiszniewski, W.1
Fondaneche, M.C.2
Le Deist, F.3
|