-
1
-
-
0000419304
-
Agammaglobulinemia
-
14929630
-
Agammaglobulinemia. Bruton O, Pediatrics 1952 9 722 8 14929630
-
(1952)
Pediatrics
, vol.9
, pp. 722-8
-
-
Bruton, O.1
-
2
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
DOI 10.1038/nri2195, PII NRI2195
-
Immunological and genetic bases of new primary immunodeficiencies. Marádi L, Notarangelo L, Nat Rev Immunol 2007 7 851 61 10.1038/nri2195 17960151 (Pubitemid 350006242)
-
(2007)
Nature Reviews Immunology
, vol.7
, Issue.11
, pp. 851-861
-
-
Marodi, L.1
Notarangelo, L.D.2
-
3
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
10.1016/j.jaci.2007.08.053 17952897
-
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Geha R, Notarangelo L, Casanova J, Chapel H, Conley M, Fischer A, Hammarström L, Nonoyama S, Ochs H, Puck J, et al. J Allergy Clin Immunol 2007 120 776 94 10.1016/j.jaci.2007.08.053 17952897
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 776-94
-
-
Geha, R.1
Notarangelo, L.2
Casanova, J.3
Chapel, H.4
Conley, M.5
Fischer, A.6
Hammarström, L.7
Nonoyama, S.8
Ochs, H.9
Puck, J.10
-
4
-
-
34249718476
-
Genetic causes of bronchiectasis: Primary immune deficiencies and the lung
-
DOI 10.1159/000101784
-
Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP, Respiration 2007 74 264 75 10.1159/000101784 17534129 (Pubitemid 46828134)
-
(2007)
Respiration
, vol.74
, Issue.3
, pp. 264-275
-
-
Notarangelo, L.D.1
Plebani, A.2
Mazzolari, E.3
Soresina, A.4
Bondioni, M.P.5
-
5
-
-
0036719682
-
Diagnosis of immunodeficiency: Clinical clues and diagnostic tests
-
10.1007/s11882-002-0066-2 12165199
-
Diagnosis of immunodeficiency: clinical clues and diagnostic tests. Paul ME, Curr Allergy Asthma Rep 2002 2 349 55 10.1007/s11882-002-0066-2 12165199
-
(2002)
Curr Allergy Asthma Rep
, vol.2
, pp. 349-55
-
-
Paul, M.E.1
-
6
-
-
4344706163
-
Functional and molecular evaluation of lymphocytes
-
DOI 10.1016/j.jaci.2004.06.001, PII S0091674904015854
-
Functional and molecular evaluation of lymphocytes. Fleisher TA, Oliveira JB, J Allergy Clin Immunol 2004 114 227 34 quiz 235 10.1016/j.jaci.2004.06.001 15316494 (Pubitemid 39119016)
-
(2004)
Journal of Allergy and Clinical Immunology
, vol.114
, Issue.2
, pp. 227-234
-
-
Fleisher, T.A.1
Bosco Oliveira, J.2
-
7
-
-
56749183339
-
Applications of flow cytometry for the study of primary immune deficiencies
-
10.1097/ACI.0b013e328312c790 18978463
-
Applications of flow cytometry for the study of primary immune deficiencies. Oliveira JB, Notarangelo LD, Fleisher TA, Curr Opin Allergy Clin Immunol 2008 8 499 509 10.1097/ACI.0b013e328312c790 18978463
-
(2008)
Curr Opin Allergy Clin Immunol
, vol.8
, pp. 499-509
-
-
Oliveira, J.B.1
Notarangelo, L.D.2
Fleisher, T.A.3
-
8
-
-
62149122238
-
Functional flow cytometry testing: An emerging approach for the evaluation of genetic disease
-
Epub 2009 Jan 15 10.1373/clinchem.2008.119248 19147728
-
Functional flow cytometry testing: an emerging approach for the evaluation of genetic disease. Fleisher TA, Oliveira JB, Clin Chem 2009 55 389 90 Epub 2009 Jan 15 10.1373/clinchem.2008.119248 19147728
-
(2009)
Clin Chem
, vol.55
, pp. 389-90
-
-
Fleisher, T.A.1
Oliveira, J.B.2
-
9
-
-
20144387328
-
Regulation of NKT cell development by SAP, the protein defective in XLP
-
DOI 10.1038/nm1189
-
Regulation of NKT cell development by SAP, the protein defective in XLP. Nichols KE, Hom J, Gong SY, Ganguly A, Ma CS, Cannons JL, Tangye SG, Schwartzberg PL, Koretzky GA, Stein PL, Nat Med 2005 11 340 5 Epub 2005 Feb 13 10.1038/nm1189 15711562 (Pubitemid 40460564)
-
(2005)
Nature Medicine
, vol.11
, Issue.3
, pp. 340-345
-
-
Nichols, K.E.1
Hom, J.2
Gong, S.-Y.3
Ganguly, A.4
Ma, C.S.5
Cannons, J.L.6
Tangye, S.G.7
Schwartzberg, P.L.8
Koretzky, G.A.9
Stein, P.L.10
-
10
-
-
64049096371
-
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
-
Epub 2009 Jan 27 10.1182/blood-2008-09-179630 19176318
-
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, et al. Blood 2009 113 3027 30 Epub 2009 Jan 27 10.1182/blood-2008-09-179630 19176318
-
(2009)
Blood
, vol.113
, pp. 3027-30
-
-
Magerus-Chatinet, A.1
Stolzenberg, M.C.2
Loffredo, M.S.3
Neven, B.4
Schaffner, C.5
Ducrot, N.6
Arkwright, P.D.7
Bader-Meunier, B.8
Barbot, J.9
Blanche, S.10
-
12
-
-
42049109458
-
Genetic Diagnosis of Primary Immune Deficiencies
-
DOI 10.1016/j.iac.2008.01.004, PII S0889856108000052
-
Genetic diagnosis of primary immune deficiencies. Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT, Immunol Allergy Clin North Am 2008 28 387 412 10.1016/j.iac.2008.01.004 18424339 (Pubitemid 351522410)
-
(2008)
Immunology and Allergy Clinics of North America
, vol.28
, Issue.2
, pp. 387-412
-
-
Morra, M.1
Geigenmuller, U.2
Curran, J.3
Rainville, I.R.4
Brennan, T.5
Curtis, J.6
Reichert, V.7
Hovhannisyan, H.8
Majzoub, J.9
Miller, D.T.10
-
13
-
-
67449086899
-
Good laboratory practices for molecular genetic testing for heritable diseases and conditions
-
quiz CE-1-4 19521335
-
Good laboratory practices for molecular genetic testing for heritable diseases and conditions. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD, MMWR Recomm Rep 2009 58 1 37 quiz CE-1-4 19521335
-
(2009)
MMWR Recomm Rep
, vol.58
, pp. 1-37
-
-
Chen, B.1
Gagnon, M.2
Shahangian, S.3
Anderson, N.L.4
Howerton, D.A.5
Boone, J.D.6
-
14
-
-
59449104188
-
Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection
-
10.1007/s10875-008-9219-y 18663564
-
Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection. Ameratunga R, Woon ST, Koopmans W, French J, J Clin Immunol 2008 29 99 106 10.1007/s10875-008-9219-y 18663564
-
(2008)
J Clin Immunol
, vol.29
, pp. 99-106
-
-
Ameratunga, R.1
Woon, S.T.2
Koopmans, W.3
French, J.4
-
15
-
-
0030710169
-
Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome
-
DOI 10.1016/S0022-3476(97)70139-2
-
Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome. Ameratunga R, Lederman HM, Sullivan KE, Ochs HD, Seyama K, French JK, Prestidge R, Marbrook J, Fanslow WC, Winkelstein JA, J Pediatr 1997 131 147 50 10.1016/S0022-3476(97)70139-2 9255207 (Pubitemid 27498324)
-
(1997)
Journal of Pediatrics
, vol.131
, Issue.1
, pp. 147-150
-
-
Ameratunga, R.1
Lederman, H.M.2
Sullivan, K.E.3
Ochs, H.D.4
Seyama, K.5
French, J.K.6
Prestidge, R.7
Marbrook, J.8
Fanslow, W.C.9
Winkelstein, J.A.10
-
16
-
-
1542376017
-
Lamotrigine-induced common variable immune deficiency
-
Lamotrigine-induced common variable immune deficiency. Smith J, Fernando T, McGrath N, Ameratunga R, Neurology 2004 62 833 4 15007150 (Pubitemid 38298976)
-
(2004)
Neurology
, vol.62
, Issue.5
, pp. 833-834
-
-
Smith, J.1
Fernando, T.2
McGrath, N.3
Ameratunga, R.4
-
17
-
-
47149090166
-
Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female
-
DOI 10.1111/j.1365-3083.2008.02128.x
-
Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Woon S-T, Ameratunga R, Croxson M, Taylor G, Neas K, Edkins E, Browett P, Gane E, Munn S, Scan J Immunol 2008 68 153 8 10.1111/j.1365-3083.2008.02128.x (Pubitemid 351977557)
-
(2008)
Scandinavian Journal of Immunology
, vol.68
, Issue.2
, pp. 153-158
-
-
Woon, S.-T.1
Ameratunga, R.2
Croxson, M.3
Taylor, G.4
Neas, K.5
Edkins, E.6
Browett, P.7
Gane, E.8
Munn, S.9
-
18
-
-
0016772968
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
-
10.1016/S0140-6736(75)92004-8 48119
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Purtilo DT, Cassel CK, Yang JP, Harper R, Lancet 1975 1 935 40 10.1016/S0140-6736(75)92004-8 48119
-
(1975)
Lancet
, vol.1
, pp. 935-40
-
-
Purtilo, D.T.1
Cassel, C.K.2
Yang, J.P.3
Harper, R.4
-
19
-
-
0032190081
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
-
DOI 10.1038/26683
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo M, et al. Nature 1998 395 462 9 10.1038/26683 9774102 (Pubitemid 28462434)
-
(1998)
Nature
, vol.395
, Issue.6701
, pp. 462-469
-
-
Sayos, J.1
Wu, C.2
Morra, M.3
Wang, N.4
Zhang, X.5
Allen, D.6
Van Schaik, S.7
Notarangelo, L.8
Geha, R.9
Roncarolo, M.G.10
Oettgen, H.11
De Vries, J.E.12
Aversa, G.13
Terhorst, C.14
-
20
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
DOI 10.1038/nature05257, PII NATURE05257
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Rigaud S, Fondanèche M, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, et al. Nature 2006 2 110 4 10.1038/nature05257 (Pubitemid 44684766)
-
(2006)
Nature
, vol.444
, Issue.7115
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.-C.2
Lambert, N.3
Pasquier, B.4
Mateo, V.5
Soulas, P.6
Galicier, L.7
Le Deist, F.8
Rieux-Laucat, F.9
Revy, P.10
Fischer, A.11
De Saint Basile, G.12
Latour, S.13
-
21
-
-
17044424680
-
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
-
Epub 2005 Jan 4 10.1182/blood-2004-09-3651 15632210
-
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH, Blood 2005 105 3066 71 Epub 2005 Jan 4 10.1182/blood-2004-09- 3651 15632210
-
(2005)
Blood
, vol.105
, pp. 3066-71
-
-
Tabata, Y.1
Villanueva, J.2
Lee, S.M.3
Zhang, K.4
Kanegane, H.5
Miyawaki, T.6
Sumegi, J.7
Filipovich, A.H.8
-
22
-
-
1942467832
-
Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia [1]
-
DOI 10.1016/j.jaci.2003.10.061
-
Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia. Morwood K, Bourne H, Gold M, Gillis D, Benson EM, J Allergy Clin Immunol 2004 113 783 5 10.1016/j.jaci.2003.10.061 15112668 (Pubitemid 38530437)
-
(2004)
Journal of Allergy and Clinical Immunology
, vol.113
, Issue.4
, pp. 783-785
-
-
Morwood, K.1
Bourne, H.2
Philpot, R.3
Gold, M.4
Gillis, D.5
Benson, E.M.6
-
23
-
-
0032756539
-
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
-
10.1093/hmg/8.13.2407 10556288
-
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, et al. Hum Mol Genet 1999 8 2407 13 10.1093/hmg/8.13.2407 10556288
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2407-13
-
-
Brandau, O.1
Schuster, V.2
Weiss, M.3
Hellebrand, H.4
Fink, F.M.5
Kreczy, A.6
Friedrich, W.7
Strahm, B.8
Niemeyer, C.9
Belohradsky, B.H.10
-
24
-
-
0037395736
-
Benign and malignant Epstein-Barr virus-associated B-cell lymphoproliferative diseases
-
DOI 10.1016/S0037-1963(03)70003-1
-
Benign and malignant Epstein-Barr virus-associated B-cell lymphoproliferative diseases. Cohen JI, Semin Hematol 2003 40 116 23 10.1016/S0037-1963(03)70003-1 12704588 (Pubitemid 36461089)
-
(2003)
Seminars in Hematology
, vol.40
, Issue.2
, pp. 116-123
-
-
Cohen, J.I.1
-
25
-
-
13144302865
-
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
-
DOI 10.1111/j.0105-2896.2005.00230.x
-
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG, Immunol Rev 2005 203 180 99 10.1111/j.0105-2896.2005.00230.x 15661030 (Pubitemid 40179702)
-
(2005)
Immunological Reviews
, vol.203
, pp. 180-199
-
-
Nichols, K.E.1
Ma, C.S.2
Cannons, J.L.3
Schwartzberg, P.L.4
Tangye, S.G.5
-
26
-
-
0036379775
-
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
-
10.1046/j.1365-2249.2002.01940.x 12296863
-
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, Notarangelo LD, Andolina M, Clin Exp Immunol 2002 130 127 30 10.1046/j.1365-2249.2002.01940.x 12296863
-
(2002)
Clin Exp Immunol
, vol.130
, pp. 127-30
-
-
Tommasini, A.1
Ferrari, S.2
Moratto, D.3
Badolato, R.4
Boniotto, M.5
Pirulli, D.6
Notarangelo, L.D.7
Andolina, M.8
-
27
-
-
53949124330
-
X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
-
Epub 2008 Sep 6 10.1016/j.clim.2008.07.022 18774749
-
X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. Lewis EM, Singla M, Sergeant S, Koty PP, McPhail LC, Clin Immunol 2008 129 372 80 Epub 2008 Sep 6 10.1016/j.clim.2008.07.022 18774749
-
(2008)
Clin Immunol
, vol.129
, pp. 372-80
-
-
Lewis, E.M.1
Singla, M.2
Sergeant, S.3
Koty, P.P.4
McPhail, L.C.5
-
28
-
-
33645298231
-
Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family
-
10.1111/j.1365-2362.2006.01619.x 16620288
-
Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. Koker MY, Sanal O, de Boer M, Tezcan I, Metin A, Tan C, Ersoy F, Roos D, Eur J Clin Invest 2006 36 257 64 10.1111/j.1365-2362.2006.01619.x 16620288
-
(2006)
Eur J Clin Invest
, vol.36
, pp. 257-64
-
-
Koker, M.Y.1
Sanal, O.2
De Boer, M.3
Tezcan, I.4
Metin, A.5
Tan, C.6
Ersoy, F.7
Roos, D.8
-
29
-
-
0035116245
-
Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization
-
DOI 10.1007/s002770000230
-
Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Rosen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J, Ann Hematol 2001 80 113 5 10.1007/s002770000230 11261321 (Pubitemid 32177958)
-
(2001)
Annals of Hematology
, vol.80
, Issue.2
, pp. 113-115
-
-
Rosen-Wolff, A.1
Soldan, W.2
Heyne, K.3
Bickhardt, J.4
Gahr, M.5
Roesler, J.6
-
30
-
-
0030723262
-
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
-
DOI 10.1038/ng1197-353
-
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, Willard HF, Nat Genet 1997 17 353 6 10.1038/ng1197-353 9354806 (Pubitemid 27476005)
-
(1997)
Nature Genetics
, vol.17
, Issue.3
, pp. 353-356
-
-
Plenge, R.M.1
Hendrich, B.D.2
Schwartz, C.3
Arena, J.F.4
Naumova, A.5
Sapienza, C.6
Winter, R.M.7
Willard, H.F.8
-
31
-
-
34548836555
-
X-linked clonality testing: Interpretation and limitations
-
DOI 10.1182/blood-2006-09-018655
-
X-linked clonality testing: interpretation and limitations. Chen GL, Prchal JT, Blood 2007 110 1411 9 10.1182/blood-2006-09-018655 17435115 (Pubitemid 47443955)
-
(2007)
Blood
, vol.110
, Issue.5
, pp. 1411-1419
-
-
Chen, G.L.1
Prchal, J.T.2
-
32
-
-
0029947122
-
Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): Report from the XLP registry
-
Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): report from the XLP registry. Gross T, Filipovich A, Conley M, Pracher E, Schmiegelow K, Verdirame J, Vowels M, Williams L, Seemayer T, Bone Marrow Transplant 1996 17 741 4 8733691 (Pubitemid 26156307)
-
(1996)
Bone Marrow Transplantation
, vol.17
, Issue.5
, pp. 741-744
-
-
Gross, T.G.1
Filipovich, A.H.2
Conley, M.E.3
Pracher, E.4
Schmiegelow, K.5
Verdirame, J.D.6
Vowels, M.7
Williams, L.L.8
Seemayer, T.A.9
-
33
-
-
22744439847
-
Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: Two cases in one family and review of the literature
-
DOI 10.1038/sj.bmt.1705016
-
Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. Lankester AC, Visser LF, Hartwig NG, Bredius RG, Gaspar HB, van der Burg M, van Tol MJ, Gross TG, Egeler RM, Bone Marrow Transplant 2005 36 99 105 10.1038/sj.bmt.1705016 15908972 (Pubitemid 41030624)
-
(2005)
Bone Marrow Transplantation
, vol.36
, Issue.2
, pp. 99-105
-
-
Lankester, A.C.1
Visser, L.F.A.2
Hartwig, N.G.3
Bredius, R.G.M.4
Gapar, H.B.5
Van Der Burg, M.6
Van Tol, M.J.D.7
Gross, T.G.8
Egeler, R.M.9
-
34
-
-
0036718154
-
X-linked lymphoproliferative disease: Genetic lesions and clinical consequences
-
10.1007/s11882-002-0068-0 12165201
-
X-linked lymphoproliferative disease: genetic lesions and clinical consequences. MacGinnitie A, Geha R, Curr Allergy Asthma Rep 2002 2 361 7 10.1007/s11882-002-0068-0 12165201
-
(2002)
Curr Allergy Asthma Rep
, vol.2
, pp. 361-7
-
-
MacGinnitie, A.1
Geha, R.2
-
35
-
-
34548445562
-
Management of hereditary angioedema in pediatric patients
-
DOI 10.1542/peds.2006-3303
-
Management of hereditary angioedema in pediatric patients. Farkas H, Varga L, Szeplaki G, Visy B, Harmat G, Bowen T, Pediatrics 2007 120 713 22 10.1542/peds.2006-3303 17724112 (Pubitemid 47358332)
-
(2007)
Pediatrics
, vol.120
, Issue.3
-
-
Farkas, H.1
Varga, L.2
Szeplaki, G.3
Visy, B.4
Harmat, G.5
Bowen, T.6
-
36
-
-
22844446842
-
Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort
-
DOI 10.1002/humu.20197
-
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M, Hum Mutat 2005 26 135 44 10.1002/humu.20197 15971231 (Pubitemid 41040682)
-
(2005)
Human Mutation
, vol.26
, Issue.2
, pp. 135-144
-
-
Roche, O.1
Blanch, A.2
Duponchel, C.3
Fontan, G.4
Tosi, M.5
Lopez-Trascasa, M.6
-
37
-
-
0035162630
-
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
-
DOI 10.1002/1098-1004(20 01)17:1<61::AID-HU MU7>3.0.CO;2-9
-
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Duponchel C, Di Rocco C, Cicardi M, Tosi M, Hum Mutat 2001 17 61 70 10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9 11139243 (Pubitemid 32051874)
-
(2001)
Human Mutation
, vol.17
, Issue.1
, pp. 61-70
-
-
Duponchel, C.1
Rocco, C.D.2
Cicardi, M.3
Tosi, M.4
-
38
-
-
0028060202
-
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn
-
DOI 10.1002/eji.1830240831
-
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn. Brugnoni D, Airo P, Graf D, Marconi M, Lebowitz M, Plebani A, Giliani S, Malacarne F, Cattaneo R, Ugazio AG, et al. Eur J Immunol 1994 24 1919 24 10.1002/eji.1830240831 7914490 (Pubitemid 24237568)
-
(1994)
European Journal of Immunology
, vol.24
, Issue.8
, pp. 1919-1924
-
-
Brugnoni, D.1
Airo, P.2
Graf, D.3
Marconi, M.4
Lebowitz, M.5
Plebani, A.6
Giliani, S.7
Malacarne, F.8
Cattaneo, R.9
Ugazio, A.G.10
Albertini, A.11
Kroczek, R.A.12
Notarangelo, L.D.13
-
39
-
-
33847211791
-
Preimplantation diagnosis for immunodeficiencies
-
2581
-
Preimplantation diagnosis for immunodeficiencies. Verlinsky Y, Rechitsky S, Sharapova T, Laziuk K, Barsky I, Verlinsky O, Tur-Kaspa I, Kuliev A, Reprod Biomed Online 2007 14 214 23 10.1016/S1472-6483(10)60790-0 17298726 (Pubitemid 46296505)
-
(2007)
Reproductive BioMedicine Online
, vol.14
, Issue.2
, pp. 214-223
-
-
Verlinsky, Y.1
Rechitsky, S.2
Sharapova, T.3
Laziuk, K.4
Barsky, I.5
Verlinsky, O.6
Tur-Kaspa, I.7
Kuliev, A.8
-
40
-
-
47149115696
-
Recent advances in gene therapy for severe congenital immunodeficiency diseases
-
10.1097/MOH.0b013e328302c807 18536577
-
Recent advances in gene therapy for severe congenital immunodeficiency diseases. Sokolic R, Kesserwan C, Candotti F, Curr Opin Hematol 2008 15 375 80 10.1097/MOH.0b013e328302c807 18536577
-
(2008)
Curr Opin Hematol
, vol.15
, pp. 375-80
-
-
Sokolic, R.1
Kesserwan, C.2
Candotti, F.3
-
41
-
-
42149136941
-
Gene therapy of inherited immunodeficiencies
-
DOI 10.1517/14712598.8.4.397
-
Gene therapy of inherited immunodeficiencies. Santilli G, Thornhill SI, Kinnon C, Thrasher AJ, Expert Opin Biol Ther 2008 8 397 407 10.1517/14712598.8. 4.397 18352845 (Pubitemid 351570406)
-
(2008)
Expert Opinion on Biological Therapy
, vol.8
, Issue.4
, pp. 397-407
-
-
Santilli, G.1
Thornhill, S.I.2
Kinnon, C.3
Thrasher, A.J.4
-
42
-
-
0028937177
-
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
-
10.1038/ng0495-414 7795648
-
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso M, Ramenghi U, Sacco M, Nat Genet 1995 9 414 7 10.1038/ng0495-414 7795648
-
(1995)
Nat Genet
, vol.9
, pp. 414-7
-
-
Villa, A.1
Notarangelo, L.2
MacChi, P.3
Mantuano, E.4
Cavagni, G.5
Brugnoni, D.6
Strina, D.7
Patrosso, M.8
Ramenghi, U.9
Sacco, M.10
-
43
-
-
0033521148
-
An essential role for BLNK in human B cell development
-
An essential role for BLNK in human B cell development. Minegishi Y, Rohrer J, Coustan-Smith E, Lederman H, Pappu R, Campana D, Chan A, ME C, Science 1999 286 1954 7 10.1126/science.286.5446.1954 10583958 (Pubitemid 129515903)
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1954-1957
-
-
Minegishi, Y.1
Rohrer, J.2
Coustan-Smith, E.3
Lederman, H.M.4
Pappu, R.5
Campana, D.6
Chan, A.C.7
Conley, M.E.8
-
44
-
-
0031594211
-
Mutations in the human λ5/14.1 Gene result in B cell deficiency and agammaglobulinemia
-
DOI 10.1084/jem.187.1.71
-
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME, J Exp Med 1998 187 71 7 10.1084/jem.187.1.71 9419212 (Pubitemid 28044821)
-
(1998)
Journal of Experimental Medicine
, vol.187
, Issue.1
, pp. 71-77
-
-
Minegishi, Y.1
Coustan-Smith, E.2
Wang, Y.-H.3
Cooper, M.D.4
Campana, D.5
Conley, M.E.6
-
45
-
-
33749425850
-
Chronic granulomatous disease; fundamental stages in our understanding of CGD
-
DOI 10.1186/1476-9433-5-4
-
Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Assari T, Med Immunol 2006 5 4 10.1186/1476-9433-5-4 16989665 (Pubitemid 44509566)
-
(2006)
Medical Immunology
, vol.5
, pp. 4
-
-
Assari, T.1
-
46
-
-
70350451062
-
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity
-
10.1182/blood-2009-07-231498 19692703
-
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, et al. Blood 2009 114 3309 15 10.1182/blood-2009-07-231498 19692703
-
(2009)
Blood
, vol.114
, pp. 3309-15
-
-
Matute, J.D.1
Arias, A.A.2
Wright, N.A.3
Wrobel, I.4
Waterhouse, C.C.5
Li, X.J.6
Marchal, C.C.7
Stull, N.D.8
Lewis, D.B.9
Steele, M.10
-
47
-
-
82755164931
-
Finally found: Human BAFF-R deficiency causes CVID
-
Finally found: human BAFF-R deficiency causes CVID. Warnatz K, Gutenberger S, Bossaller L, Schlesier M, Grimbacher B, Eibel H, Peter H, XIth Meeting of the European Society for Immunodeficiencies 21-24 October 2004; Versailles., [Abstract #B. 72] 2004
-
(2004)
XIth Meeting of the European Society for Immunodeficiencies 21-24 October 2004; Versailles., [Abstract #B. 72]
-
-
Warnatz, K.1
Gutenberger, S.2
Bossaller, L.3
Schlesier, M.4
Grimbacher, B.5
Eibel, H.6
Peter, H.7
-
48
-
-
23044443492
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
-
DOI 10.1038/ng1600
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Salzer U, Chapel H, Webster A, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter H, Rockstroh J, Schneider P, Schäffer A, et al. Nat Genet 2005 37 8 820 8 10.1038/ng1600 16007087 (Pubitemid 41077107)
-
(2005)
Nature Genetics
, vol.37
, Issue.8
, pp. 820-828
-
-
Salzer, U.1
Chapel, H.M.2
Webster, A.D.B.3
Pan-Hammarstrom, Q.4
Schmitt-Graeff, A.5
Schlesier, M.6
Peter, H.H.7
Rockstroh, J.K.8
Schneider, P.9
Schaffer, A.A.10
Hammarstrom, L.11
Grimbacher, B.12
-
49
-
-
0037340349
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
-
DOI 10.1038/ni902
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Dräger R, Eibel H, Fischer B, Schäffer A, Mages H, et al. Nat Immunol 2003 4 261 268 10.1038/ni902 12577056 (Pubitemid 36322136)
-
(2003)
Nature Immunology
, vol.4
, Issue.3
, pp. 261-268
-
-
Grimbacher, B.1
Hutloff, A.2
Schlesier, M.3
Glocker, E.4
Warnatz, K.5
Drager, R.6
Eibel, H.7
Fischer, B.8
Schaffer, A.A.9
Mages, H.W.10
Kroczek, R.A.11
Peter, H.H.12
-
50
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
DOI 10.1056/NEJMoa051568
-
An antibody-deficiency syndrome due to mutations in the CD19 gene. van Zelm M, Reisli I, van der Burg M, Castão D, van Noesel C, van Tol M, Woellner C, Grimbacher B, Patĩo P, van Dongen J, et al. N Engl J Med 2006 354 1901 12 10.1056/NEJMoa051568 16672701 (Pubitemid 43872691)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.18
, pp. 1901-1912
-
-
Van Zelm, M.C.1
Reisli, I.2
Van Der Burg, M.3
Castano, D.4
Van Noesel, C.J.M.5
Van Tol, M.J.D.6
Woellner, C.7
Grimbacher, B.8
Patino, P.J.9
Van Dongen, J.J.M.10
Franco, J.L.11
-
51
-
-
66749092909
-
Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions
-
10.1111/j.1365-2141.2009.07669.x 19344423
-
Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Chapel H, Cunningham-Rundles C, Br J Haematol 2009 145 709 27 10.1111/j.1365-2141.2009. 07669.x 19344423
-
(2009)
Br J Haematol
, vol.145
, pp. 709-27
-
-
Chapel, H.1
Cunningham-Rundles, C.2
-
52
-
-
77950425996
-
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis
-
10.1002/humu.21213 20127985
-
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis. Vossen RH, van Duijn M, Daha MR, den Dunnen JT, Roos A, Hum Mutat 31 1286 93 10.1002/humu.21213 20127985
-
Hum Mutat
, vol.31
, pp. 51286-93
-
-
Vossen, R.H.1
Van Duijn, M.2
Daha, M.R.3
Den Dunnen, J.T.4
Roos, A.5
-
53
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
10.1073/pnas.0910672106 19861545
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, et al. Proc Natl Acad Sci USA 2009 106 19096 101 10.1073/pnas.0910672106 19861545
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 19096-101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
Liu, T.4
Tikhonova, I.R.5
Zumbo, P.6
Nayir, A.7
Bakkaloglu, A.8
Ozen, S.9
Sanjad, S.10
-
54
-
-
34948870078
-
Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation
-
DOI 10.1016/j.jaci.2007.08.043, PII S0091674907016430
-
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. Puck JM, J Allergy Clin Immunol 2007 120 760 8 10.1016/j.jaci.2007.08.043 17931561 (Pubitemid 47542285)
-
(2007)
Journal of Allergy and Clinical Immunology
, vol.120
, Issue.4
, pp. 760-768
-
-
Puck, J.M.1
-
55
-
-
69349101950
-
Development of a routine newborn screening protocol for severe combined immunodeficiency
-
10.1016/j.jaci.2009.04.007 19482345
-
Development of a routine newborn screening protocol for severe combined immunodeficiency. Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, Cogley MF, Litsheim TJ, Katcher ML, Routes JM, J Allergy Clin Immunol 2009 124 522 7 10.1016/j.jaci.2009.04.007 19482345
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 522-7
-
-
Baker, M.W.1
Grossman, W.J.2
Laessig, R.H.3
Hoffman, G.L.4
Brokopp, C.D.5
Kurtycz, D.F.6
Cogley, M.F.7
Litsheim, T.J.8
Katcher, M.L.9
Routes, J.M.10
-
56
-
-
45149104257
-
Investigating genetic discrimination in Australia: A large-scale survey of clinical genetics clients
-
DOI 10.1111/j.1399-0004.2008.01016.x
-
Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients. Taylor S, Treloar S, Barlow-Stewart K, Stranger M, Otlowski M, Clin Genet 2008 74 20 30 10.1111/j.1399-0004.2008.01016.x 18492091 (Pubitemid 351833815)
-
(2008)
Clinical Genetics
, vol.74
, Issue.1
, pp. 20-30
-
-
Taylor, S.1
Treloar, S.2
Barlow-Stewart, K.3
Stranger, M.4
Otlowski, M.5
-
57
-
-
70449516737
-
Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: An efficient strategy for a small developed country
-
19859091
-
Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. Ameratunga R, Woon ST, N Z Med J 2009 122 46 53 19859091
-
(2009)
N Z Med J
, vol.122
, pp. 46-53
-
-
Ameratunga, R.1
Woon, S.T.2
-
58
-
-
31344443014
-
Carrier testing in minors: A systematic review of guidelines and position papers
-
DOI 10.1038/sj.ejhg.5201509, PII 5201509
-
Carrier testing in minors: a systematic review of guidelines and position papers. Borry P, Fryns JP, Schotsmans P, Dierickx K, Eur J Hum Genet 2006 14 133 8 10.1038/sj.ejhg.5201509 16267502 (Pubitemid 43135853)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.2
, pp. 133-138
-
-
Borry, P.1
Fryns, J.-P.2
Schotsmans, P.3
Dierickx, K.4
-
59
-
-
33749473075
-
Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers
-
DOI 10.1111/j.1399-0004.2006.00692.x
-
Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K, Clin Genet 2006 70 374 81 10.1111/j.1399-0004.2006.00692.x 17026616 (Pubitemid 44515636)
-
(2006)
Clinical Genetics
, vol.70
, Issue.5
, pp. 374-381
-
-
Borry, P.1
Stultiens, L.2
Nys, H.3
Cassiman, J.-J.4
Dierickx, K.5
-
60
-
-
34247608672
-
A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships
-
DOI 10.1002/pon.1062
-
A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships. van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Brocker-Vriends AH, van Asperen CJ, Sijmons RH, Seynaeve C, Van Gool AR, Klijn JG, Riedijk SR, et al. Psychooncology 2007 16 320 8 10.1002/pon.1062 16909428 (Pubitemid 46681102)
-
(2007)
Psycho-Oncology
, vol.16
, Issue.4
, pp. 320-328
-
-
Van Oostrom, I.1
Meijers-Heijboer, H.2
Duivenvoorden, H.J.3
Brocker-Vriends, A.H.J.T.4
Van Asperen, C.J.5
Sijmons, R.H.6
Seynaeve, C.7
Van Gool, A.R.8
Klijn, J.G.M.9
Riedijk, S.R.10
Van Dooren, S.11
Tibben, A.12
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