-
1
-
-
84871337373
-
History of primary immunodeficiency diseases
-
Ochs H.D., Hitzig W.H. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol 2012, 12(6):577-587.
-
(2012)
Curr Opin Allergy Clin Immunol
, vol.12
, Issue.6
, pp. 577-587
-
-
Ochs, H.D.1
Hitzig, W.H.2
-
2
-
-
84900846113
-
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
-
Al-Herz W., Bousfiha A., Casanova J.L., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014, 5:162.
-
(2014)
Front Immunol
, vol.5
, pp. 162
-
-
Al-Herz, W.1
Bousfiha, A.2
Casanova, J.L.3
-
3
-
-
77249139158
-
Selective IgA deficiency
-
Yel L. Selective IgA deficiency. J Clin Immunol 2010, 30(1):10-16.
-
(2010)
J Clin Immunol
, vol.30
, Issue.1
, pp. 10-16
-
-
Yel, L.1
-
4
-
-
84906543118
-
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
-
Kwan A., Abraham R.S., Currier R., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312(7):729-738.
-
(2014)
JAMA
, vol.312
, Issue.7
, pp. 729-738
-
-
Kwan, A.1
Abraham, R.S.2
Currier, R.3
-
5
-
-
84901423053
-
ICON: the early diagnosis of congenital immunodeficiencies
-
Routes J., Abinun M., Al-Herz W., et al. ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol 2014, 34(4):398-424.
-
(2014)
J Clin Immunol
, vol.34
, Issue.4
, pp. 398-424
-
-
Routes, J.1
Abinun, M.2
Al-Herz, W.3
-
6
-
-
84907597606
-
Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach
-
Grumach A.S., Kirschfink M. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Mol Immunol 2014, 61(2):110-117.
-
(2014)
Mol Immunol
, vol.61
, Issue.2
, pp. 110-117
-
-
Grumach, A.S.1
Kirschfink, M.2
-
7
-
-
79960121968
-
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency
-
Picard C., Casanova J.L., Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev 2011, 24(3):490-497.
-
(2011)
Clin Microbiol Rev
, vol.24
, Issue.3
, pp. 490-497
-
-
Picard, C.1
Casanova, J.L.2
Puel, A.3
-
8
-
-
84890918243
-
Deficiency of innate and acquired immunity caused by an IKBKB mutation
-
Pannicke U., Baumann B., Fuchs S., et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med 2013, 369(26):2504-2514.
-
(2013)
N Engl J Med
, vol.369
, Issue.26
, pp. 2504-2514
-
-
Pannicke, U.1
Baumann, B.2
Fuchs, S.3
-
9
-
-
84890435435
-
Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans
-
Frazao J.B., Errante P.R., Condino-Neto A. Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans. Arch Immunol Ther Exp (Warsz) 2013, 61(6):427-443.
-
(2013)
Arch Immunol Ther Exp (Warsz)
, vol.61
, Issue.6
, pp. 427-443
-
-
Frazao, J.B.1
Errante, P.R.2
Condino-Neto, A.3
-
10
-
-
84883232593
-
Natural killer cell deficiency
-
[quiz: 526]
-
Orange J.S. Natural killer cell deficiency. J Allergy Clin Immunol 2013, 132(3):515-525. [quiz: 526].
-
(2013)
J Allergy Clin Immunol
, vol.132
, Issue.3
, pp. 515-525
-
-
Orange, J.S.1
-
11
-
-
84907549906
-
Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders
-
Faitelson Y., Grunebaum E. Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders. Clin Immunol 2014, 155(1):118-125.
-
(2014)
Clin Immunol
, vol.155
, Issue.1
, pp. 118-125
-
-
Faitelson, Y.1
Grunebaum, E.2
-
12
-
-
84920449880
-
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA
-
Charbonnier L.M., Janssen E., Chou J., et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol 2015, 135(1):217-227.
-
(2015)
J Allergy Clin Immunol
, vol.135
, Issue.1
, pp. 217-227
-
-
Charbonnier, L.M.1
Janssen, E.2
Chou, J.3
-
13
-
-
84888115370
-
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases
-
Verbsky J.W., Chatila T.A. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr 2013, 25(6):708-714.
-
(2013)
Curr Opin Pediatr
, vol.25
, Issue.6
, pp. 708-714
-
-
Verbsky, J.W.1
Chatila, T.A.2
-
14
-
-
84889883472
-
X-linked lymphoproliferative syndromes and related autosomal recessive disorders
-
Veillette A., Perez-Quintero L.A., Latour S. X-linked lymphoproliferative syndromes and related autosomal recessive disorders. Curr Opin Allergy Clin Immunol 2013, 13(6):614-622.
-
(2013)
Curr Opin Allergy Clin Immunol
, vol.13
, Issue.6
, pp. 614-622
-
-
Veillette, A.1
Perez-Quintero, L.A.2
Latour, S.3
-
15
-
-
77949264165
-
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
-
Lohr N.J., Molleston J.P., Strauss K.A., et al. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet 2010, 86(3):447-453.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.3
, pp. 447-453
-
-
Lohr, N.J.1
Molleston, J.P.2
Strauss, K.A.3
-
16
-
-
77957746866
-
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop
-
Oliveira J.B., Bleesing J.J., Dianzani U., et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010, 116(14):e35-e40.
-
(2010)
Blood
, vol.116
, Issue.14
, pp. e35-e40
-
-
Oliveira, J.B.1
Bleesing, J.J.2
Dianzani, U.3
-
17
-
-
84922515812
-
The hereditary autoinflammatory disorders uncovered
-
Rigante D., Vitale A., Lucherini O.M., et al. The hereditary autoinflammatory disorders uncovered. Autoimmun Rev 2014, 13(9):892-900.
-
(2014)
Autoimmun Rev
, vol.13
, Issue.9
, pp. 892-900
-
-
Rigante, D.1
Vitale, A.2
Lucherini, O.M.3
-
18
-
-
84896543266
-
Laboratory diagnosis of primary immunodeficiencies
-
Locke B.A., Dasu T., Verbsky J.W. Laboratory diagnosis of primary immunodeficiencies. Clin Rev Allergy Immunol 2014, 46(2):154-168.
-
(2014)
Clin Rev Allergy Immunol
, vol.46
, Issue.2
, pp. 154-168
-
-
Locke, B.A.1
Dasu, T.2
Verbsky, J.W.3
-
19
-
-
80255138210
-
Choices in IgG replacement therapy for primary immune deficiency diseases: subcutaneous IgG vs. intravenous IgG and selecting an optimal dose
-
Berger M. Choices in IgG replacement therapy for primary immune deficiency diseases: subcutaneous IgG vs. intravenous IgG and selecting an optimal dose. Curr Opin Allergy Clin Immunol 2011, 11(6):532-538.
-
(2011)
Curr Opin Allergy Clin Immunol
, vol.11
, Issue.6
, pp. 532-538
-
-
Berger, M.1
-
20
-
-
84904510392
-
Sarcoidosis and common variable immunodeficiency: similarities and differences
-
Verbsky J.W., Routes J.M. Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 2014, 35(3):330-335.
-
(2014)
Semin Respir Crit Care Med
, vol.35
, Issue.3
, pp. 330-335
-
-
Verbsky, J.W.1
Routes, J.M.2
-
21
-
-
84926258207
-
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency
-
Wehr C., Gennery A.R., Lindemans C., et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol 2015, 135(4):988-997.e6.
-
(2015)
J Allergy Clin Immunol
, vol.135
, Issue.4
, pp. 988-997.e6
-
-
Wehr, C.1
Gennery, A.R.2
Lindemans, C.3
-
22
-
-
84904136263
-
Lentiviral vectors for the treatment of primary immunodeficiencies
-
Farinelli G., Capo V., Scaramuzza S., et al. Lentiviral vectors for the treatment of primary immunodeficiencies. J Inherit Metab Dis 2014, 37(4):525-533.
-
(2014)
J Inherit Metab Dis
, vol.37
, Issue.4
, pp. 525-533
-
-
Farinelli, G.1
Capo, V.2
Scaramuzza, S.3
-
23
-
-
84904876386
-
Transplantation outcomes for severe combined immunodeficiency, 2000-2009
-
Pai S.Y., Logan B.R., Griffith L.M., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014, 371(5):434-446.
-
(2014)
N Engl J Med
, vol.371
, Issue.5
, pp. 434-446
-
-
Pai, S.Y.1
Logan, B.R.2
Griffith, L.M.3
-
24
-
-
84896542493
-
Recent advances in transplantation for primary immune deficiency diseases: a comprehensive review
-
de la Morena M.T., Nelson R.P. Recent advances in transplantation for primary immune deficiency diseases: a comprehensive review. Clin Rev Allergy Immunol 2014, 46(2):131-144.
-
(2014)
Clin Rev Allergy Immunol
, vol.46
, Issue.2
, pp. 131-144
-
-
de la Morena, M.T.1
Nelson, R.P.2
-
25
-
-
66049158683
-
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features
-
Jyonouchi S., McDonald-McGinn D.M., Bale S., et al. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 2009, 123(5):e871-e877.
-
(2009)
Pediatrics
, vol.123
, Issue.5
, pp. e871-e877
-
-
Jyonouchi, S.1
McDonald-McGinn, D.M.2
Bale, S.3
-
26
-
-
84856225980
-
Immunological aspects of 22q11.2 deletion syndrome
-
Gennery A.R. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci 2012, 69(1):17-27.
-
(2012)
Cell Mol Life Sci
, vol.69
, Issue.1
, pp. 17-27
-
-
Gennery, A.R.1
-
28
-
-
79959690687
-
Educational paper: primary antibody deficiencies
-
Driessen G., van der Burg M. Educational paper: primary antibody deficiencies. Eur J Pediatr 2011, 170(6):693-702.
-
(2011)
Eur J Pediatr
, vol.170
, Issue.6
, pp. 693-702
-
-
Driessen, G.1
van der Burg, M.2
-
29
-
-
33746286879
-
X-linked agammaglobulinemia: report on a United States registry of 201 patients
-
Winkelstein J.A., Marino M.C., Lederman H.M., et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006, 85(4):193-202.
-
(2006)
Medicine (Baltimore)
, vol.85
, Issue.4
, pp. 193-202
-
-
Winkelstein, J.A.1
Marino, M.C.2
Lederman, H.M.3
-
32
-
-
0345276650
-
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
-
Winkelstein J.A., Marino M.C., Ochs H., et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003, 82(6):373-384.
-
(2003)
Medicine (Baltimore)
, vol.82
, Issue.6
, pp. 373-384
-
-
Winkelstein, J.A.1
Marino, M.C.2
Ochs, H.3
-
33
-
-
84898058993
-
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility
-
Crank M.C., Grossman J.K., Moir S., et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol 2014, 34(3):272-276.
-
(2014)
J Clin Immunol
, vol.34
, Issue.3
, pp. 272-276
-
-
Crank, M.C.1
Grossman, J.K.2
Moir, S.3
-
34
-
-
69249139541
-
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity
-
Picard C., Dogniaux S., Chemin K., et al. Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. Eur J Immunol 2009, 39(7):1966-1976.
-
(2009)
Eur J Immunol
, vol.39
, Issue.7
, pp. 1966-1976
-
-
Picard, C.1
Dogniaux, S.2
Chemin, K.3
-
35
-
-
0034932953
-
Familial CD8 deficiency due to a mutation in the CD8 alpha gene
-
de la Calle-Martin O., Hernandez M., Ordi J., et al. Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest 2001, 108(1):117-123.
-
(2001)
J Clin Invest
, vol.108
, Issue.1
, pp. 117-123
-
-
de la Calle-Martin, O.1
Hernandez, M.2
Ordi, J.3
-
36
-
-
27644538518
-
Clinical and immunological aspects of HLA class I deficiency
-
Zimmer J., Andres E., Donato L., et al. Clinical and immunological aspects of HLA class I deficiency. QJM 2005, 98(10):719-727.
-
(2005)
QJM
, vol.98
, Issue.10
, pp. 719-727
-
-
Zimmer, J.1
Andres, E.2
Donato, L.3
-
37
-
-
0035064073
-
The bare lymphocyte syndrome and the regulation of MHC expression
-
Reith W., Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol 2001, 19:331-373.
-
(2001)
Annu Rev Immunol
, vol.19
, pp. 331-373
-
-
Reith, W.1
Mach, B.2
-
38
-
-
80054928104
-
Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency
-
Li F.Y., Lenardo M.J., Chaigne-Delalande B. Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency. Magnesium Res 2011, 24(3):S109-S114.
-
(2011)
Magnesium Res
, vol.24
, Issue.3
, pp. S109-S114
-
-
Li, F.Y.1
Lenardo, M.J.2
Chaigne-Delalande, B.3
-
39
-
-
84869144892
-
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
-
Hauck F., Randriamampita C., Martin E., et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol 2012, 130(5):1144-1152.e11.
-
(2012)
J Allergy Clin Immunol
, vol.130
, Issue.5
, pp. 1144-1152.e11
-
-
Hauck, F.1
Randriamampita, C.2
Martin, E.3
-
40
-
-
84862132898
-
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
-
Lopez-Herrera G., Tampella G., Pan-Hammarstrom Q., et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 2012, 90(6):986-1001.
-
(2012)
Am J Hum Genet
, vol.90
, Issue.6
, pp. 986-1001
-
-
Lopez-Herrera, G.1
Tampella, G.2
Pan-Hammarstrom, Q.3
-
41
-
-
84856911463
-
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia
-
Gorska M.M., Alam R. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood 2012, 119(6):1399-1406.
-
(2012)
Blood
, vol.119
, Issue.6
, pp. 1399-1406
-
-
Gorska, M.M.1
Alam, R.2
-
42
-
-
84857800335
-
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
-
van Montfrans J.M., Hoepelman A.I., Otto S., et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol 2012, 129(3):787-793.e6.
-
(2012)
J Allergy Clin Immunol
, vol.129
, Issue.3
, pp. 787-793.e6
-
-
van Montfrans, J.M.1
Hoepelman, A.I.2
Otto, S.3
-
43
-
-
84912042007
-
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects
-
Ghosh S., Bienemann K., Boztug K., et al. Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. J Clin Immunol 2014, 34(8):892-899.
-
(2014)
J Clin Immunol
, vol.34
, Issue.8
, pp. 892-899
-
-
Ghosh, S.1
Bienemann, K.2
Boztug, K.3
-
44
-
-
84898768721
-
Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments
-
Buchbinder D., Nugent D.J., Fillipovich A.H. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet 2014, 7:55-66.
-
(2014)
Appl Clin Genet
, vol.7
, pp. 55-66
-
-
Buchbinder, D.1
Nugent, D.J.2
Fillipovich, A.H.3
-
45
-
-
84856946231
-
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
-
Lanzi G., Moratto D., Vairo D., et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 2012, 209(1):29-34.
-
(2012)
J Exp Med
, vol.209
, Issue.1
, pp. 29-34
-
-
Lanzi, G.1
Moratto, D.2
Vairo, D.3
-
46
-
-
84870738828
-
Diseases associated with defective responses to DNA damage
-
pii:a012773
-
O'Driscoll M. Diseases associated with defective responses to DNA damage. Cold Spring Harb Perspect Biol 2012, 4(12). [pii:a012773].
-
(2012)
Cold Spring Harb Perspect Biol
, vol.4
, Issue.12
-
-
O'Driscoll, M.1
-
47
-
-
49649107242
-
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia
-
Baradaran-Heravi A., Thiel C., Rauch A., et al. Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet A 2008, 146A(15):2013-2017.
-
(2008)
Am J Med Genet A
, vol.146A
, Issue.15
, pp. 2013-2017
-
-
Baradaran-Heravi, A.1
Thiel, C.2
Rauch, A.3
-
48
-
-
84916894941
-
Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care
-
Farmand S., Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol 2015, 22(1):12-22.
-
(2015)
Curr Opin Hematol
, vol.22
, Issue.1
, pp. 12-22
-
-
Farmand, S.1
Sundin, M.2
-
49
-
-
70349754453
-
Genetic etiologies of leukocyte adhesion defects
-
Etzioni A. Genetic etiologies of leukocyte adhesion defects. Curr Opin Immunol 2009, 21(5):481-486.
-
(2009)
Curr Opin Immunol
, vol.21
, Issue.5
, pp. 481-486
-
-
Etzioni, A.1
|