-
1
-
-
77949779418
-
Update on the hyper immunoglobulin M syndromes
-
Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br. J. Haematol. 149(2), 167-180 (2010).
-
(2010)
Br. J. Haematol
, vol.149
, Issue.2
, pp. 167-180
-
-
Davies, E.G.1
Thrasher, A.J.2
-
2
-
-
11144258626
-
Genetically acquired class-switch recombination defects: The multi-faced hyper-IgM syndrome
-
Erdos M, Durandy A, Maródi L. Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome. Immunol. Lett. 97(1), 1-6 (2005).
-
(2005)
Immunol. Lett
, vol.97
, Issue.1
, pp. 1-6
-
-
Erdos, M.1
Durandy, A.2
Maródi, L.3
-
3
-
-
55249111485
-
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature
-
Erdos M, Garami M, Rákóczi E et al. Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clin. Immunol. 129(3), 455-461 (2008).
-
(2008)
Clin. Immunol
, vol.129
, Issue.3
, pp. 455-461
-
-
Erdos, M.1
Garami, M.2
Rákóczi, E.3
-
4
-
-
67651173344
-
Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency
-
Kashef S, Ghaedian MM, Rezaei N et al. Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency. J. Investig. Allergol. Clin. Immunol. 19(3), 233-236 (2009).
-
(2009)
J. Investig. Allergol. Clin. Immunol
, vol.19
, Issue.3
, pp. 233-236
-
-
Kashef, S.1
Ghaedian, M.M.2
Rezaei, N.3
-
6
-
-
10744226125
-
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activationinduced 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 activationinduced cytidine deaminase deficiency. Clin. Immunol. 110(1), 22-29 (2004).
-
(2004)
Clin. Immunol
, vol.110
, Issue.1
, pp. 22-29
-
-
Quartier, P.1
Bustamante, J.2
Sanal, O.3
-
7
-
-
54249089840
-
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia
-
Rezaei N, Aghamohammadi A, Ramyar A, Pan-Hammarstrom Q, Hammarstrom L. Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. Int. Arch. Allergy Immunol. 147(3), 255-259 (2008).
-
(2008)
Int. Arch. Allergy Immunol
, vol.147
, Issue.3
, pp. 255-259
-
-
Rezaei, N.1
Aghamohammadi, A.2
Ramyar, A.3
Pan-Hammarstrom, Q.4
Hammarstrom, L.5
-
8
-
-
72849145526
-
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations
-
Aghamohammadi A, Parvaneh N, Rezaei N et al. Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. J. Clin. Immunol. 29(6), 769-776 (2009).
-
(2009)
J. Clin. Immunol
, vol.29
, Issue.6
, pp. 769-776
-
-
Aghamohammadi, A.1
Parvaneh, N.2
Rezaei, N.3
-
9
-
-
33745747405
-
Consanguinity in primary immunodeficiency disorders; The report from Iranian Primary Immunodeficiency Registry
-
Rezaei N, Pourpak Z, Aghamohammadi A et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am. J. Reprod. Immunol. 56(2), 145-151 (2006).
-
(2006)
Am. J. Reprod. Immunol
, vol.56
, Issue.2
, pp. 145-151
-
-
Rezaei, N.1
Pourpak, Z.2
Aghamohammadi, A.3
-
10
-
-
33751084044
-
Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry
-
Rezaei N, Aghamohammadi A, Moin M et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J. Clin. Immunol. 26(6), 519-532 (2006).
-
(2006)
J. Clin. Immunol
, vol.26
, Issue.6
, pp. 519-532
-
-
Rezaei, N.1
Aghamohammadi, A.2
Moin, M.3
-
11
-
-
19944429493
-
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome
-
Fiorini C, Jilani S, Losi CG et al. A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. Eur. J. Pediatr. 163(12), 704-708 (2004).
-
(2004)
Eur. J. Pediatr
, vol.163
, Issue.12
, pp. 704-708
-
-
Fiorini, C.1
Jilani, S.2
Losi, C.G.3
-
12
-
-
0034264851
-
Activationinduced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
-
Revy P, Muto T, Levy Y et al. Activationinduced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102(5), 565-575 (2000).
-
(2000)
Cell
, vol.102
, Issue.5
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
-
13
-
-
0033603340
-
Specific expression of activationinduced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells
-
Muramatsu M, Sankaranand VS, Anant S et al. Specific expression of activationinduced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J. Biol. Chem. 274(26), 18470-18476 (1999).
-
(1999)
J. Biol. Chem
, vol.274
, Issue.26
, pp. 18470-18476
-
-
Muramatsu, M.1
Sankaranand, V.S.2
Anant, S.3
-
14
-
-
33947511293
-
Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males
-
Erdos M, Alapi K, Maródi L. Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males. Haematologica 92(2), 281-282 (2007).
-
(2007)
Haematologica
, vol.92
, Issue.2
, pp. 281-282
-
-
Erdos, M.1
Alapi, K.2
Maródi, L.3
-
15
-
-
0036961559
-
Cross-talk between CD40 and CD40L: Lessons from primary immune deficiencies
-
Ferrari S, Plebani A. Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies. Curr. Opin. Allergy Clin. Immunol. 2(6), 489-494 (2002).
-
(2002)
Curr. Opin. Allergy Clin. Immunol
, vol.2
, Issue.6
, pp. 489-494
-
-
Ferrari, S.1
Plebani, A.2
-
16
-
-
2342650877
-
Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: A single center experience
-
Tomizawa D, Imai K, Ito S et al. Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am. J. Hematol. 76(1), 33-39 (2004).
-
(2004)
Am. J. Hematol
, vol.76
, Issue.1
, pp. 33-39
-
-
Tomizawa, D.1
Imai, K.2
Ito, S.3
-
17
-
-
33750975915
-
Activation-induced cytidine deaminase: Structure-function relationship as based on the study of mutants
-
Durandy A, Peron S, Taubenheim N, Fischer A. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Hum. Mutat. 27(12), 1185-1191 (2006).
-
(2006)
Hum. Mutat
, vol.27
, Issue.12
, pp. 1185-1191
-
-
Durandy, A.1
Peron, S.2
Taubenheim, N.3
Fischer, A.4
-
18
-
-
34047235797
-
The structural basis of hyper IgM deficiency-CD40L mutations
-
Thusberg J, Vihinen M. The structural basis of hyper IgM deficiency-CD40L mutations. Protein Eng. Des. Sel. 20(3), 133-141 (2007).
-
(2007)
Protein Eng. Des. Sel
, vol.20
, Issue.3
, pp. 133-141
-
-
Thusberg, J.1
Vihinen, M.2
-
19
-
-
14944385521
-
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
-
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 105(5), 1881-1890 (2005).
-
(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
-
20
-
-
57349135239
-
Dissociation of in vitro DNA deamination activity and physiological functions of AID mutants
-
Shivarov V, Shinkura R, Honjo T. Dissociation of in vitro DNA deamination activity and physiological functions of AID mutants. Proc. Natl Acad. Sci. USA 105(41), 15866-15871 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, Issue.41
, pp. 15866-15871
-
-
Shivarov, V.1
Shinkura, R.2
Honjo, T.3
-
21
-
-
4444377646
-
De novo protein synthesis is required for activationinduced cytidine deaminase-dependent DNA cleavage in immunoglobulin class switch recombination
-
Begum NA, Kinoshita K, Muramatsu M, Nagaoka H, Shinkura R, Honjo T. De novo protein synthesis is required for activationinduced cytidine deaminase-dependent DNA cleavage in immunoglobulin class switch recombination. Proc. Natl Acad. Sci. USA 101(35), 13003-13007 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, Issue.35
, pp. 13003-13007
-
-
Begum, N.A.1
Kinoshita, K.2
Muramatsu, M.3
Nagaoka, H.4
Shinkura, R.5
Honjo, T.6
-
22
-
-
60049096481
-
Molecular mechanism for generation of antibody memory
-
Shivarov V, Shinkura R, Doi T et al. Molecular mechanism for generation of antibody memory. Philos. Trans. R. Soc. Lond., B, Biol. Sci. 364(1517), 569-575 (2009).
-
(2009)
Philos. Trans. R. Soc. Lond., B, Biol. Sci
, vol.364
, Issue.1517
, pp. 569-575
-
-
Shivarov, V.1
Shinkura, R.2
Doi, T.3
-
23
-
-
0037019315
-
AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification
-
Petersen-Mahrt SK, Harris RS, Neuberger MS. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418(6893), 99-103 (2002).
-
(2002)
Nature
, vol.418
, Issue.6893
, pp. 99-103
-
-
Petersen-Mahrt, S.K.1
Harris, R.S.2
Neuberger, M.S.3
-
24
-
-
38049012778
-
Regulation of aicda expression and AID activity: Relevance to somatic hypermutation and class switch DNA recombination
-
Xu Z, Pone EJ, Al-Qahtani A, Park SR, Zan H, Casali P. Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination. Crit. Rev. Immunol. 27(4), 367-397 (2007).
-
(2007)
Crit. Rev. Immunol
, vol.27
, Issue.4
, pp. 367-397
-
-
Xu, Z.1
Pone, E.J.2
Al-Qahtani, A.3
Park, S.R.4
Zan, H.5
Casali, P.6
-
25
-
-
0041381361
-
AID mutant analyses indicate requirement for class-switch-specific cofactors
-
Ta VT, Nagaoka H, Catalan N et al. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat. Immunol. 4(9), 843-848 (2003).
-
(2003)
Nat. Immunol
, vol.4
, Issue.9
, pp. 843-848
-
-
Ta, V.T.1
Nagaoka, H.2
Catalan, N.3
-
26
-
-
3242795967
-
Separate domains of AID are required for somatic hypermutation and class-switch recombination
-
Shinkura R, Ito S, Begum NA et al. Separate domains of AID are required for somatic hypermutation and class-switch recombination. Nat. Immunol. 5(7), 707-712 (2004).
-
(2004)
Nat. Immunol
, vol.5
, Issue.7
, pp. 707-712
-
-
Shinkura, R.1
Ito, S.2
Begum, N.A.3
-
27
-
-
0027434027
-
The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase
-
Navaratnam N, Morrison JR, Bhattacharya S et al. The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase. J. Biol. Chem. 268(28), 20709-20712 (1993).
-
(1993)
J. Biol. Chem
, vol.268
, Issue.28
, pp. 20709-20712
-
-
Navaratnam, N.1
Morrison, J.R.2
Bhattacharya, S.3
-
28
-
-
0033669973
-
Mutations in activationinduced cytidine deaminase in patients with hyper IgM syndrome
-
Minegishi Y, Lavoie A, Cunningham-Rundles C et al. Mutations in activationinduced cytidine deaminase in patients with hyper IgM syndrome. Clin. Immunol. 97(3), 203-210 (2000).
-
(2000)
Clin. Immunol
, vol.97
, Issue.3
, pp. 203-210
-
-
Minegishi, Y.1
Lavoie, A.2
Cunningham-Rundles, C.3
-
29
-
-
78649525622
-
Mortality in primary immunodeficient patients, registered in Iranian primary immunodeficiency registry
-
Mir Saeid Ghazi B, Aghamohammadi A, Kouhi A et al. Mortality in primary immunodeficient patients, registered in Iranian primary immunodeficiency registry. Iran. J. Allergy. Asthma. Immunol. 3(1), 31-36 (2004).
-
(2004)
Iran. J. Allergy. Asthma. Immunol
, vol.3
, Issue.1
, pp. 31-36
-
-
Mir Saeid Ghazi, B.1
Aghamohammadi, A.2
Kouhi, A.3
-
30
-
-
84857799430
-
Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia
-
Micol R, Kayal S, Mahlaoui N et al. Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. J. Allergy Clin. Immunol. 129(3), 770-777 (2012).
-
(2012)
J. Allergy Clin. Immunol
, vol.129
, Issue.3
, pp. 770-777
-
-
Micol, R.1
Kayal, S.2
Mahlaoui, N.3
-
31
-
-
33751011339
-
Immunodeficiency mutation databases (IDbases)
-
Piirilä H, Väliaho J, Vihinen M. Immunodeficiency mutation databases (IDbases). Hum. Mutat. 27(12), 1200-1208 (2006).
-
(2006)
Hum. Mutat
, vol.27
, Issue.12
, pp. 1200-1208
-
-
Piirilä, H.1
Väliaho, J.2
Vihinen, M.3
-
32
-
-
58149177158
-
RAPID: Resource of Asian Primary Immunodeficiency Diseases
-
Keerthikumar S, Raju R, Kandasamy K et al. RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res. 37, D863-D867 (2009).
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Keerthikumar, S.1
Raju, R.2
Kandasamy, K.3
-
33
-
-
0037872240
-
Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase
-
Zhu Y, Nonoyama S, Morio T, Muramatsu M, Honjo T, Mizutani S. Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase. J. Med. Dent. Sci. 50(1), 41-46 (2003).
-
(2003)
J. Med. Dent. Sci
, vol.50
, Issue.1
, pp. 41-46
-
-
Zhu, Y.1
Nonoyama, S.2
Morio, T.3
Muramatsu, M.4
Honjo, T.5
Mizutani, S.6
-
34
-
-
34548260858
-
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome
-
Erdos M, Lakos G, Dérfalvi B, Notarangelo LD, Durandy A, Maródi L. Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. Mol. Immunol. 45(1), 278-282 (2008).
-
(2008)
Mol. Immunol
, vol.45
, Issue.1
, pp. 278-282
-
-
Erdos, M.1
Lakos, G.2
Dérfalvi, B.3
Notarangelo, L.D.4
Durandy, A.5
Maródi, L.6
-
35
-
-
0029001413
-
Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells
-
Facchetti F, Appiani C, Salvi L, Levy J, Notarangelo LD. Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells. J. Immunol. 154(12), 6624-6633 (1995).
-
(1995)
J. Immunol
, vol.154
, Issue.12
, pp. 6624-6633
-
-
Facchetti, F.1
Appiani, C.2
Salvi, L.3
Levy, J.4
Notarangelo, L.D.5
-
36
-
-
0034837614
-
Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels
-
Noguchi E, Shibasaki M, Inudou M et al. Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels. J. Allergy Clin. Immunol. 108(3), 382-386 (2001).
-
(2001)
J. Allergy Clin. Immunol
, vol.108
, Issue.3
, pp. 382-386
-
-
Noguchi, E.1
Shibasaki, M.2
Inudou, M.3
-
37
-
-
0141921995
-
Hyper-IgM syndrome with putative dominant negative mutation in activationinduced cytidine deaminase
-
Kasahara Y, Kaneko H, Fukao T et al. Hyper-IgM syndrome with putative dominant negative mutation in activationinduced cytidine deaminase. J. Allergy Clin. Immunol. 112(4), 755-760 (2003).
-
(2003)
J. Allergy Clin. Immunol
, vol.112
, Issue.4
, pp. 755-760
-
-
Kasahara, Y.1
Kaneko, H.2
Fukao, T.3
-
38
-
-
19044396637
-
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2
-
Imai K, Zhu Y, Revy P et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin. Immunol. 115(3), 277-285 (2005).
-
(2005)
Clin. Immunol
, vol.115
, Issue.3
, pp. 277-285
-
-
Imai, K.1
Zhu, Y.2
Revy, P.3
-
39
-
-
0141992113
-
C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion
-
Barreto V, Reina-San-Martin B, Ramiro AR, McBride KM, Nussenzweig MC. C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion. Mol. Cell 12(2), 501-508 (2003).
-
(2003)
Mol. Cell
, vol.12
, Issue.2
, pp. 501-508
-
-
Barreto, V.1
Reina-San-Martin, B.2
Ramiro, A.R.3
McBride, K.M.4
Nussenzweig, M.C.5
-
40
-
-
62449089909
-
The C-terminal region of activation-induced cytidine deaminase is responsible for a recombination function other than DNA cleavage in class switch recombination
-
Doi T, Kato L, Ito S et al. The C-terminal region of activation-induced cytidine deaminase is responsible for a recombination function other than DNA cleavage in class switch recombination. Proc. Natl Acad. Sci. USA 106(8), 2758-2763 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, Issue.8
, pp. 2758-2763
-
-
Doi, T.1
Kato, L.2
Ito, S.3
-
41
-
-
1242341972
-
Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1
-
Ito S, Nagaoka H, Shinkura R et al. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. Proc. Natl Acad. Sci. USA 101(7), 1975-1980 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, Issue.7
, pp. 1975-1980
-
-
Ito, S.1
Nagaoka, H.2
Shinkura, R.3
|