-
2
-
-
84930273804
-
Basic components: Structure and function
-
In. Chapel, H. Haeney, M. Misbah, S. Snowden, N. eds
-
Chapel H, Haeney M, Misbah S, Snowden N. Basic components: structure and function. In : Chapel H, Haeney M, Misbah S, Snowden N, eds. Essentials of Clinical Immunology.
-
Essentials of Clinical Immunology
-
-
Chapel, H.1
Haeney, M.2
Misbah, S.3
Snowden, N.4
-
3
-
-
13144254208
-
Genetic analysis of patients with defects in early B-cell development
-
DOI 10.1111/j.0105-2896.2005.00233.x
-
Conley ME, Broides A, Hernandez-Trujillo V, et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev 2005 : 203 : 216 234. (Pubitemid 40179703)
-
(2005)
Immunological Reviews
, vol.203
, pp. 216-234
-
-
Conley, M.E.1
Broides, A.2
Hernandez-Trujillo, V.3
Howard, V.4
Kanegane, H.5
Miyawaki, T.6
Shurtleff, S.A.7
-
4
-
-
0345865076
-
Human primary immunodeficiency diseases: A perspective
-
DOI 10.1038/ni1023
-
Fischer A. Human primary immunodeficiency diseases: a perspective. Nat Immunol 2004 : 5 : 23 30. (Pubitemid 38081465)
-
(2004)
Nature Immunology
, vol.5
, Issue.1
, pp. 23-30
-
-
Fischer, A.1
-
5
-
-
0141522658
-
Primary immune deficiencies unravel the molecular basis of immune response
-
Notarangelo LD, Giliani S, Mazzolari E, Gulino AV. Primary immune deficiencies unravel the molecular basis of immune response. Rev Clin Exp Hematol 2003 : 7 : 84 111. (Pubitemid 37168914)
-
(2003)
Reviews in Clinical and Experimental Hematology
, vol.7
, Issue.1
, pp. 84-111
-
-
Notarangelo, L.D.1
Giliani, S.2
Mazzolari, E.3
Gulino, A.V.4
-
6
-
-
0030804030
-
Primary immunodeficiency diseases. Report of a WHO scientific Group
-
Rosen F, Wedgwood R, Eibl M, et al. Primary immunodeficiency diseases. Report of a WHO scientific Group. Clin Exp Immunol 1997 : 109 : 1 28.
-
(1997)
Clin Exp Immunol
, vol.109
, pp. 1-28
-
-
Rosen, F.1
Wedgwood, R.2
Eibl, M.3
-
7
-
-
84927661991
-
Genetically determined immunodeficiency diseases: A perspective
-
2nd edn. In. Ochs, H.D. Smith, C.I.E. Puck, J.M. eds
-
Smith CIE, Ochs HD, Puck JM. Genetically determined immunodeficiency diseases: a perspective. In : Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases, a Molecular and Genetic Approach, 2nd edn.
-
Primary Immunodeficiency Diseases, A Molecular and Genetic Approach
-
-
Smith, C.I.E.1
Ochs, H.D.2
Puck, J.M.3
-
8
-
-
34547905737
-
Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: A systematic review
-
DOI 10.1111/j.1365-2249.2007.03432.x
-
Wood P, Stanworth S, Burton J, et al. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol 2007 : 149 : 410 423. (Pubitemid 47256150)
-
(2007)
Clinical and Experimental Immunology
, vol.149
, Issue.3
, pp. 410-423
-
-
Wood, P.1
Stanworth, S.2
Burton, J.3
Jones, A.4
Peckham, D.G.5
Green, T.6
Hyde, C.7
Chapel, H.8
-
9
-
-
0034535238
-
Complement deficiencies
-
Frank MM. Complement deficiencies. Pediatr Clin North Am 2000 : 47 : 1339 1354.
-
(2000)
Pediatr Clin North Am
, vol.47
, pp. 1339-1354
-
-
Frank, M.M.1
-
10
-
-
0035849176
-
Complement. Second of two parts
-
Walport MJ. Complement. Second of two parts. N Engl J Med 2001 344 : 1140 1144.
-
(2001)
N Engl J Med
, vol.344
, pp. 1140-1144
-
-
Walport, M.J.1
-
11
-
-
0031252388
-
Immune function
-
Fleisher TA. Immune function. Pediatr Rev 1997 : 18 : 351 356.
-
(1997)
Pediatr Rev
, vol.18
, pp. 351-356
-
-
Fleisher, T.A.1
-
12
-
-
1942500177
-
Clinical and laboratory evaluation of complement deficiency
-
DOI 10.1016/j.jaci.2004.02.003
-
Wen L, Atkinson JP, Giclas PC. Clinical and laboratory evaluation of complement deficiency. J Allergy Clin Immunol 2004 : 113 : 585 593 quiz 94. (Pubitemid 38530409)
-
(2004)
Journal of Allergy and Clinical Immunology
, vol.113
, Issue.4
, pp. 585-594
-
-
Wen, L.1
Atkinson, J.P.2
Giclas, P.C.3
-
13
-
-
0024673263
-
The child with frequent infections
-
Wood RA, Sampson HA. The child with frequent infections. Curr Probl Pediatr 1989 : 19 : 229 284.
-
(1989)
Curr Probl Pediatr
, vol.19
, pp. 229-284
-
-
Wood, R.A.1
Sampson, H.A.2
-
14
-
-
42649115767
-
TH17 cells in development: An updated view of their molecular identity and genetic programming
-
DOI 10.1038/nri2295, PII NRI2295
-
Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat Rev Immunol 2008 : 8 : 337 348. (Pubitemid 351595217)
-
(2008)
Nature Reviews Immunology
, vol.8
, Issue.5
, pp. 337-348
-
-
Dong, C.1
-
15
-
-
0036224043
-
Primary immunodeficiency disorders: Antibody deficiency
-
DOI 10.1067/mai.2002.122466
-
Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 2002 : 109 : 581 591. (Pubitemid 34327181)
-
(2002)
Journal of Allergy and Clinical Immunology
, vol.109
, Issue.4
, pp. 581-591
-
-
Ballow, M.1
-
16
-
-
0036246445
-
Primary cellular immunodeficiencies
-
Buckley RH. Primary cellular immunodeficiencies. J Allergy Clin Immunol 2002 : 109 : 747 757.
-
(2002)
J Allergy Clin Immunol
, vol.109
, pp. 747-757
-
-
Buckley, R.H.1
-
17
-
-
34848906018
-
The four most common pediatric immunodeficiencies
-
Stiehm RE. The four most common pediatric immunodeficiencies. Adv Exp Med Biol 2007 : 601 : 15 26.
-
(2007)
Adv Exp Med Biol
, vol.601
, pp. 15-26
-
-
Stiehm, R.E.1
-
18
-
-
34548357281
-
The child with recurrent respiratory infections: Normal or not?
-
DOI 10.1111/j.1399-3038.2007.00625.x
-
de Martino M, Ballotti S. The child with recurrent respiratory infections: normal or not? Pediatr Allergy Immunol 2007 : 18 (Suppl. 18 13 8. (Pubitemid 47340813)
-
(2007)
Pediatric Allergy and Immunology
, vol.18
, Issue.SUPPL. 18
, pp. 13-18
-
-
De Martino, M.1
Ballotti, S.2
-
19
-
-
84927964420
-
Approach to the evaluation of the immunodeficient patient
-
In. Rich, R.R. Fleisher, T.A. Shearer, W.T. Schroeder, H. Kotzin, B. eds
-
Paul ME, Shearer WT. Approach to the evaluation of the immunodeficient patient. In : Rich RR, Fleisher TA, Shearer WT, Schroeder H, Kotzin B, eds. Clinical Immunology: Principles and Practice.
-
Clinical Immunology: Principles and Practice
-
-
Paul, M.E.1
Shearer, W.T.2
-
20
-
-
0038074204
-
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
-
Bartsch O, Nemeckova M, Kocarek E, et al. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A 2003 : 117A : 1 5. (Pubitemid 37059312)
-
(2003)
American Journal of Medical Genetics
, vol.A117
, Issue.1
, pp. 1-5
-
-
Bartsch, O.1
Nemeckova, M.2
Kocarek, E.3
Wagner, A.4
Puchmajerova, A.5
Poppe, M.6
Ounap, K.7
Goetz, P.8
-
21
-
-
33646054205
-
Primary immunodeficiency or not? Making the correct diagnosis.
-
Buckley RH. Primary immunodeficiency or not? Making the correct diagnosis. J Allergy Clin Immunol 2006 : 117 : 756 758.
-
(2006)
J Allergy Clin Immunol
, vol.117
, pp. 756-758
-
-
Buckley, R.H.1
-
22
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley RH, Schiff RI, Schiff SE, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997 : 130 : 378 387.
-
(1997)
J Pediatr
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
-
23
-
-
0031832573
-
Consequences of the delayed diagnosis of ataxia-telangiectasia
-
Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics 1998 : 102 : 98 100.
-
(1998)
Pediatrics
, vol.102
, pp. 98-100
-
-
Cabana, M.D.1
Crawford, T.O.2
Winkelstein, J.A.3
Christensen, J.R.4
Lederman, H.M.5
-
24
-
-
0032806334
-
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
-
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999 : 93 : 190 197.
-
(1999)
Clin Immunol
, vol.93
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
26
-
-
0035114291
-
Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis
-
DOI 10.1046/j.1365-2249.2001.01430.x
-
de Moraes-Vasconcelos D, Orii NM, Romano CC, Iqueoka RY, Duarte AJ. Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis. Clin Exp Immunol 2001 : 123 : 247 253. (Pubitemid 32174776)
-
(2001)
Clinical and Experimental Immunology
, vol.123
, Issue.2
, pp. 247-253
-
-
De Moraes-Vasconcelos, D.1
Orii, N.M.2
Romano, C.C.3
Iqueoka, R.Y.4
Da S Duarte, A.J.5
-
27
-
-
0034515822
-
Leukocyte adhesion deficiency II - From A to almost Z
-
Etzioni A, Tonetti M. Leukocyte adhesion deficiency II-from A to almost Z. Immunol Rev 2000 : 178 : 138 147. (Pubitemid 32095227)
-
(2000)
Immunological Reviews
, vol.178
, pp. 138-147
-
-
Etzioni, A.1
Tonetti, M.2
-
28
-
-
0033522220
-
Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder
-
DOI 10.1056/NEJM199903043400904
-
Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. N Engl J Med 1999 : 340 : 692 702. (Pubitemid 29110753)
-
(1999)
New England Journal of Medicine
, vol.340
, Issue.9
, pp. 692-702
-
-
Grimbacher, B.1
Holland, S.M.2
Gallin, J.I.3
Greenberg, F.4
Hill, S.C.5
Malech, H.L.6
Miller, J.A.7
O'Connell, A.C.8
Dent, B.9
Puck, J.M.10
-
29
-
-
0018821254
-
X-linked lymphoproliferative syndrome registry report
-
Hamilton JK, Paquin LA, Sullivan JL, et al. X-linked lymphoproliferative syndrome registry report. J Pediatr 1980 : 96 : 669 673.
-
(1980)
J Pediatr
, vol.96
, pp. 669-673
-
-
Hamilton, J.K.1
Paquin, L.A.2
Sullivan, J.L.3
-
30
-
-
0031424277
-
Clinical features of myelokathexis and treatment with hematopoietic cytokines: A case report of two patients and review of the literature
-
Hord JD, Whitlock JA, Gay JC, Lukens JN. Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature. J Pediatr Hematol Oncol 1997 : 19 : 443 448.
-
(1997)
J Pediatr Hematol Oncol
, vol.19
, pp. 443-448
-
-
Hord, J.D.1
Whitlock, J.A.2
Gay, J.C.3
Lukens, J.N.4
-
31
-
-
0031896101
-
Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature
-
Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 1998 : 38 : 295 300. (Pubitemid 28115235)
-
(1998)
Journal of the American Academy of Dermatology
, vol.38
, Issue.II2
, pp. 295-300
-
-
Mancini, A.J.1
Chan, L.S.2
Paller, A.S.3
-
32
-
-
1842607448
-
Immunodeficiency and infections in ataxia-telangiectasia
-
Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004 : 144 : 505 511.
-
(2004)
J Pediatr
, vol.144
, pp. 505-511
-
-
Nowak-Wegrzyn, A.1
Crawford, T.O.2
Winkelstein, J.A.3
Carson, K.A.4
Lederman, H.M.5
-
34
-
-
1942435989
-
Phagocyte immunodeficiencies and their infections
-
Rosenzweig SD, Holland SM. Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol 2004 : 113 : 620 626.
-
(2004)
J Allergy Clin Immunol
, vol.113
, pp. 620-626
-
-
Rosenzweig, S.D.1
Holland, S.M.2
-
35
-
-
0035996808
-
Griscelli disease: Genotype-phenotype correlation in an array of clinical heterogeneity
-
DOI 10.1023/A:1016045026204
-
Sanal O, Ersoy F, Tezcan I, et al. Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J Clin Immunol 2002 : 22 : 237 243. (Pubitemid 34774987)
-
(2002)
Journal of Clinical Immunology
, vol.22
, Issue.4
, pp. 237-243
-
-
Sanal, O.1
Ersoy, F.2
Tezcan, I.3
Metin, A.4
Yel, L.5
Menasche, G.6
Gurgey, A.7
Berkel, I.8
De Saint Basile, G.9
-
36
-
-
0034514418
-
X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein
-
Schuster V, Kreth HW. X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein. Immunol Rev 2000 : 178 : 21 8. (Pubitemid 32095216)
-
(2000)
Immunological Reviews
, vol.178
, pp. 21-28
-
-
Schuster, V.1
Kreth, H.W.2
-
37
-
-
0017885124
-
Plasma levels of carcinoembryonic antigen in patients with ataxia telangiectasia
-
Sugimoto T, Sawada T, Tozawa M, Kidowaki T, Kusunoki T, Yamaguchi N. Plasma levels of carcinoembryonic antigen in patients with ataxia- telangiectasia. J Pediatr 1978 : 92 : 436 439. (Pubitemid 8296502)
-
(1978)
Journal of Pediatrics
, vol.92
, Issue.3
, pp. 436-439
-
-
Sugimoto, T.1
Sawada, T.2
Tozawa, M.3
-
38
-
-
0015524106
-
Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia
-
Waldmann TA, McIntire KR. Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet 1972 : 2 : 1112 1115.
-
(1972)
Lancet
, vol.2
, pp. 1112-1115
-
-
Waldmann, T.A.1
McIntire, K.R.2
-
39
-
-
0025123316
-
A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia
-
DOI 10.1016/0002-9343(90)90187-I
-
Wetzler M, Talpaz M, Kleinerman ES, et al. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med 1990 : 89 : 663 672. (Pubitemid 20384326)
-
(1990)
American Journal of Medicine
, vol.89
, Issue.5
, pp. 663-672
-
-
Wetzler, M.1
Talpaz, M.2
Kleinerman, E.S.3
King, A.4
Huh, Y.O.5
Gutterman, J.U.6
Kurzrock, R.7
-
40
-
-
33847400149
-
Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency
-
DOI 10.1111/j.1399-3038.2006.00491.x
-
Kutukculer N, Karaca NE, Demircioglu O, Aksu G. Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. Pediatr Allergy Immunol 2007 : 18 : 167 173. (Pubitemid 46333721)
-
(2007)
Pediatric Allergy and Immunology
, vol.18
, Issue.2
, pp. 167-173
-
-
Kutukculer, N.1
Karaca, N.E.2
Demircioglu, O.3
Aksu, G.4
-
41
-
-
21044456732
-
Practice parameter for the diagnosis and management of primary immunodeficiency
-
Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005 : 94 : S1 63.
-
(2005)
Ann Allergy Asthma Immunol
, vol.94
, pp. 1-63
-
-
Bonilla, F.A.1
Bernstein, I.L.2
Khan, D.A.3
-
42
-
-
34548233320
-
Population prevalence of diagnosed primary immunodeficiency diseases in the United States
-
DOI 10.1007/s10875-007-9103-1
-
Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007 : 27 : 497 502. (Pubitemid 47319256)
-
(2007)
Journal of Clinical Immunology
, vol.27
, Issue.5
, pp. 497-502
-
-
Boyle, J.M.1
Buckley, R.H.2
-
43
-
-
34547732069
-
Primary immunodeficiencies: A field in its infancy
-
DOI 10.1126/science.1142963
-
Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007 : 317 : 617 619. (Pubitemid 47229951)
-
(2007)
Science
, vol.317
, Issue.5838
, pp. 617-619
-
-
Casanova, J.-L.1
Abel, L.2
-
44
-
-
35948933873
-
Neonatal screening for severe combined immune deficiency
-
DOI 10.1097/ACI.0b013e3282f14a2a, PII 0013083220071200000010
-
Puck JM. Neonatal screening for severe combined immune deficiency. Curr Opin Allergy Clin Immunol 2007 : 7 : 522 527. (Pubitemid 350076448)
-
(2007)
Current Opinion in Allergy and Clinical Immunology
, vol.7
, Issue.6
, pp. 522-527
-
-
Puck, J.M.1
-
45
-
-
33846210019
-
The European internet-based patient and research database for primary immunodeficiencies: Results 2004-06
-
DOI 10.1111/j.1365-2249.2006.03292.x
-
Eades-Perner AM, Gathmann B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol 2007 : 147 : 306 312. (Pubitemid 46096009)
-
(2007)
Clinical and Experimental Immunology
, vol.147
, Issue.2
, pp. 306-312
-
-
Eades-Perner, A.-M.1
Gathmann, B.2
Knerr, V.3
Guzman, D.4
Veit, D.5
Kindle, G.6
Grimbacher, B.7
-
46
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007 : 120 : 776 794.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 776-794
-
-
Geha, R.S.1
Notarangelo, L.D.2
Casanova, J.L.3
-
47
-
-
33745947720
-
Patient-centred screening for primary immunodeficiency: A multi-stage diagnostic protocol designed for non-immunologists
-
DOI 10.1111/j.1365-2249.2006.03138.x
-
de Vries E. Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol 2006 : 145 : 204 214. (Pubitemid 44060109)
-
(2006)
Clinical and Experimental Immunology
, vol.145
, Issue.2
, pp. 204-214
-
-
De Vries, E.1
-
48
-
-
43349093096
-
Clinical Immunology Review Series: An approach to the patient with recurrent infections in childhood
-
DOI 10.1111/j.1365-2249.2008.03641.x
-
Slatter MA, Gennery AR. Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin Exp Immunol 2008 : 152 : 389 396. (Pubitemid 351661497)
-
(2008)
Clinical and Experimental Immunology
, vol.152
, Issue.3
, pp. 389-396
-
-
Slatter, M.A.1
Gennery, A.R.2
-
49
-
-
0029063838
-
Evaluation of the child with suspected primary immunodeficiency
-
Wahn U. Evaluation of the child with suspected primary immunodeficiency. Pediatr Allergy Immunol 1995 : 6 : 71 9.
-
(1995)
Pediatr Allergy Immunol
, vol.6
, pp. 71-79
-
-
Wahn, U.1
-
50
-
-
0003053791
-
Chronic granulomatous disease
-
2nd edn. In. Ochs, H.D. Smith, C.I.E. Puck, J.M. eds
-
Roos D, Kuijpers TW, Curnutte JT. Chronic granulomatous disease. In : Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. 2nd edn.
-
Primary Immunodeficiency Diseases. A Molecular and Genetic Approach
-
-
Roos, D.1
Kuijpers, T.W.2
Curnutte, J.T.3
-
51
-
-
37849008955
-
Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study
-
Martire B, Rondelli R, Soresina A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol 2008 : 126 : 155 164.
-
(2008)
Clin Immunol
, vol.126
, pp. 155-164
-
-
Martire, B.1
Rondelli, R.2
Soresina, A.3
-
52
-
-
38349105032
-
Modern management of chronic granulomatous disease
-
Seger RA. Modern management of chronic granulomatous disease. Br J Haematol 2008 : 140 : 255 266.
-
(2008)
Br J Haematol
, vol.140
, pp. 255-266
-
-
Seger, R.A.1
-
53
-
-
14644437025
-
Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients
-
Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr Allergy Immunol 2005 : 16 : 5 9.
-
(2005)
Pediatr Allergy Immunol
, vol.16
, pp. 5-9
-
-
Carnide, E.G.1
Jacob, C.A.2
Castro, A.M.3
Pastorino, A.C.4
-
54
-
-
0027131795
-
Chronic meningococcemia in a child with a deficiency of the sixth component of complement
-
Fasano MB, Sullivan K, Ibsen L, Winkelstein JA. Chronic meningococcemia in a child with a deficiency of the sixth component of complement. Pediatr Allergy Immunol 1993 : 4 : 214 216. (Pubitemid 24004026)
-
(1993)
Pediatric Allergy and Immunology
, vol.4
, Issue.4
, pp. 214-216
-
-
Fasano, M.B.1
Sullivan, K.2
Ibsen, L.3
Winkelstein, J.A.4
-
55
-
-
33750876845
-
The clinical syndrome of specific antibody deficiency in children
-
DOI 10.1111/j.1365-2249.2006.03242.x
-
Boyle RJ, Le C, Balloch A, Tang ML. The clinical syndrome of specific antibody deficiency in children. Clin Exp Immunol 2006 : 146 : 486 492. (Pubitemid 44722168)
-
(2006)
Clinical and Experimental Immunology
, vol.146
, Issue.3
, pp. 486-492
-
-
Boyle, R.J.1
Le, C.2
Balloch, A.3
Tang, M.L.-K.4
-
56
-
-
0036219062
-
Genetic dissection of immunity to mycobacteria: The human model
-
DOI 10.1146/annurev.immunol.20.081501.125851
-
Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 2002 : 20 : 581 620. (Pubitemid 34293435)
-
(2002)
Annual Review of Immunology
, vol.20
, pp. 581-620
-
-
Casanova, J.-L.1
Abel, L.2
-
57
-
-
33745951448
-
Early indicators of immunodeficiency in adults and children: Protocols for screening for primary immunological defects
-
DOI 10.1111/j.1365-2249.2006.03126.x
-
Sewell WA, Khan S, Dore PC. Early indicators of immunodeficiency in adults and children: protocols for screening for primary immunological defects. Clin Exp Immunol 2006 : 145 : 201 203. (Pubitemid 44060108)
-
(2006)
Clinical and Experimental Immunology
, vol.145
, Issue.2
, pp. 201-203
-
-
Sewell, W.A.C.1
Khan, S.2
Dore, P.C.3
-
58
-
-
34848886630
-
Evaluation of suspected immunodeficiency
-
Fleisher TA. Evaluation of suspected immunodeficiency. Adv Exp Med Biol 2007 : 601 : 291 300.
-
(2007)
Adv Exp Med Biol
, vol.601
, pp. 291-300
-
-
Fleisher, T.A.1
-
59
-
-
0036216719
-
Neutropenia associated with primary immunodeficiency syndromes
-
Cham B, Bonilla MA, Winkelstein J. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol 2002 : 39 : 107 112. (Pubitemid 34298834)
-
(2002)
Seminars in Hematology
, vol.39
, Issue.2
, pp. 107-112
-
-
Cham, B.1
Bonilla, M.A.2
Winkelstein, J.3
-
60
-
-
33750837515
-
Hemophagocytic lymphohistiocytosis and related disorders
-
Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol 2006 : 6 : 410 415.
-
(2006)
Curr Opin Allergy Clin Immunol
, vol.6
, pp. 410-415
-
-
Filipovich, A.H.1
-
61
-
-
0024493149
-
Primary immunodeficiency disease in children: An update
-
Pachman LM, Lynch PA, Silver RK, Ozog DL, Poznanski AK. Primary immunodeficiency disease in children: an update. Curr Probl Pediatr 1989 : 19 : 1 64.
-
(1989)
Curr Probl Pediatr
, vol.19
, pp. 1-64
-
-
Pachman, L.M.1
Lynch, P.A.2
Silver, R.K.3
Ozog, D.L.4
Poznanski, A.K.5
-
62
-
-
0031723224
-
Influence of age on the response to Streptococcus pneumoniae vaccine in patients with recurrent infections and normal immunoglobulin concentrations
-
Sorensen RU, Leiva LE, Javier FC III., et al. Influence of age on the response to Streptococcus pneumoniae vaccine in patients with recurrent infections and normal immunoglobulin concentrations. J Allergy Clin Immunol 1998 : 102 : 215 221.
-
(1998)
J Allergy Clin Immunol
, vol.102
, pp. 215-221
-
-
Sorensen, R.U.1
Leiva, L.E.2
Javier, III.F.C.3
-
63
-
-
0032032958
-
Screening for primary immunodeficiencies in the clinical immunology laboratory
-
DOI 10.1006/clin.1997.4469
-
Noroski LM, Shearer WT. Screening for primary immunodeficiencies in the clinical immunology laboratory. Clin Immunol Immunopathol 1998 : 86 : 237 245. (Pubitemid 28169454)
-
(1998)
Clinical Immunology and Immunopathology
, vol.86
, Issue.3
, pp. 237-245
-
-
Noroski, L.M.1
Shearer, W.T.2
-
64
-
-
0022388670
-
Recurrent sinopulmonary infection and impaired antibody response to bacterial capsular polysaccharide antigen in children with selective IgG-subclass deficiency
-
Umetsu DT, Ambrosino DM, Quinti I, Siber GR, Geha RS. Recurrent sinopulmonary infection and impaired antibody response to bacterial capsular polysaccharide antigen in children with selective IgG-subclass deficiency. N Engl J Med 1985 : 313 : 1247 1251.
-
(1985)
N Engl J Med
, vol.313
, pp. 1247-1251
-
-
Umetsu, D.T.1
Ambrosino, D.M.2
Quinti, I.3
Siber, G.R.4
Geha, R.S.5
-
65
-
-
0023123106
-
An immunodeficiency characterized by impaired antibody responses to polysaccharides
-
Ambrosino DM, Siber GR, Chilmonczyk BA, Jernberg JB, Finberg RW. An immunodeficiency characterized by impaired antibody responses to polysaccharides. N Engl J Med 1987 : 316 : 790 793. (Pubitemid 17046088)
-
(1987)
New England Journal of Medicine
, vol.316
, Issue.13
, pp. 790-793
-
-
Ambrosino, D.M.1
Siber, G.R.2
Chilmonczyk, B.A.3
-
66
-
-
0023917821
-
Selective defect in the antibody response to Haemophilus influenzae type b in children with recurrent infections and normal serum IgG subclass levels
-
Ambrosino DM, Umetsu DT, Siber GR, et al. Selective defect in the antibody response to Haemophilus influenzae type b in children with recurrent infections and normal serum IgG subclass levels. J Allergy Clin Immunol 1988 : 81 : 1175 1179.
-
(1988)
J Allergy Clin Immunol
, vol.81
, pp. 1175-1179
-
-
Ambrosino, D.M.1
Umetsu, D.T.2
Siber, G.R.3
-
67
-
-
0029093687
-
Selective deficiency in pneumococcal antibody response in children with recurrent infections
-
Epstein MM, Gruskay F. Selective deficiency in pneumococcal antibody response in children with recurrent infections. Ann Allergy Asthma Immunol 1995 : 75 : 125 131.
-
(1995)
Ann Allergy Asthma Immunol
, vol.75
, pp. 125-131
-
-
Epstein, M.M.1
Gruskay, F.2
-
68
-
-
0037326202
-
24. Clinical and laboratory assessment of immunity
-
Folds JD, Schmitz JL. 24. Clinical and laboratory assessment of immunity. J Allergy Clin Immunol 2003 : 111 : S702 11.
-
(2003)
J Allergy Clin Immunol
, vol.111
, pp. 702-711
-
-
Folds, J.D.1
Schmitz, J.L.2
-
69
-
-
0030760625
-
Diagnosis and carrier detection of chronic granulomatous disease in five families by flow cytometry
-
Crockard AD, Thompson JM, Boyd NA, Haughton DJ, McCluskey DR, Turner CP. Diagnosis and carrier detection of chronic granulomatous disease in five families by flow cytometry. Int Arch Allergy Immunol 1997 : 114 : 144 152.
-
(1997)
Int Arch Allergy Immunol
, vol.114
, pp. 144-152
-
-
Crockard, A.D.1
Thompson, J.M.2
Boyd, N.A.3
Haughton, D.J.4
McCluskey, D.R.5
Turner, C.P.6
-
70
-
-
0028887591
-
Flow cytometric analysis of the granulocyte respiratory burst: A comparison study of fluorescent probes
-
Vowells SJ, Sekhsaria S, Malech HL, Shalit M, Fleisher TA. Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Methods 1995 : 178 : 89 97.
-
(1995)
J Immunol Methods
, vol.178
, pp. 89-97
-
-
Vowells, S.J.1
Sekhsaria, S.2
Malech, H.L.3
Shalit, M.4
Fleisher, T.A.5
-
71
-
-
0034938535
-
Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females
-
DOI 10.1046/j.1365-2141.2001.02905.x
-
Futatani T, Watanabe C, Baba Y, Tsukada S, Ochs HD. Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. Br J Haematol 2001 : 114 : 141 149. (Pubitemid 32702647)
-
(2001)
British Journal of Haematology
, vol.114
, Issue.1
, pp. 141-149
-
-
Futatani, T.1
Watanabe, C.2
Baba, Y.3
Tsukada, S.4
Ochs, H.D.5
-
72
-
-
0037340349
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
-
DOI 10.1038/ni902
-
Grimbacher B, Hutloff A, Schlesier M, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003 : 4 : 261 268. (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
-
73
-
-
0034041626
-
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
-
DOI 10.1046/j.1365-2249.2000.01244.x
-
Kanegane H, Tsukada S, Iwata T, et al. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol 2000 : 120 : 512 517. (Pubitemid 30365558)
-
(2000)
Clinical and Experimental Immunology
, vol.120
, Issue.3
, pp. 512-517
-
-
Kanegane, H.1
Tsukada, S.2
Iwata, T.3
Futatani, T.4
Nomura, K.5
Yamamoto, J.6
Yoshida, T.7
Agematsu, K.8
Komiyama, A.9
Miyawaki, T.10
-
74
-
-
0036469993
-
Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations
-
DOI 10.1016/S0022-1759(01)00549-X, PII S002217590100549X
-
Kawai S, Minegishi M, Ohashi Y, et al. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J Immunol Methods 2002 : 260 : 195 205. (Pubitemid 34132885)
-
(2002)
Journal of Immunological Methods
, vol.260
, Issue.1-2
, pp. 195-205
-
-
Kawai, S.1
Minegishi, M.2
Ohashi, Y.3
Sasahara, Y.4
Kumaki, S.5
Konno, T.6
Miki, H.7
Derry, J.8
Nonoyama, S.9
Miyawaki, T.10
Horibe, K.11
Tachibana, N.12
Kudoh, E.13
Yoshimura, Y.14
Izumikawa, Y.15
Sako, M.16
Tsuchiya, S.17
-
75
-
-
0035469882
-
Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome
-
Morra M, Silander O, Calpe S, et al. Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. Blood 2001 : 98 : 1321 1325.
-
(2001)
Blood
, vol.98
, pp. 1321-1325
-
-
Morra, M.1
Silander, O.2
Calpe, S.3
-
76
-
-
0034925597
-
Assessment of male CVID patients for mutations in the Btk gene: How many have been misdiagnosed?
-
DOI 10.1046/j.1365-2249.2001.01556.x
-
Weston SA, Prasad ML, Mullighan CG, Chapel H, Benson EM. Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? Clin Exp Immunol 2001 : 124 : 465 469. (Pubitemid 32701709)
-
(2001)
Clinical and Experimental Immunology
, vol.124
, Issue.3
, pp. 465-469
-
-
Weston, S.A.1
Prasad, M.L.2
Mullighan, C.G.3
Chapel, H.4
Benson, E.M.5
-
77
-
-
0034662278
-
Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells
-
Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol 2000 : 165 : 1119 1122. (Pubitemid 30484784)
-
(2000)
Journal of Immunology
, vol.165
, Issue.2
, pp. 1119-1122
-
-
Yamada, M.1
Ariga, T.2
Kawamura, N.3
Yamaguchi, K.4
Ohtsu, M.5
Nelson, D.L.6
Kondoh, T.7
Kobayashi, I.8
Okano, M.9
Kobayashi, K.10
Sakiyama, Y.11
-
78
-
-
12144287918
-
Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics
-
DOI 10.1023/B:JOCI.0000018063.55963.0c
-
Samarghitean C, Valiaho J, Vihinen M. Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics. J Clin Immunol 2004 : 24 : 53 61. (Pubitemid 38375795)
-
(2004)
Journal of Clinical Immunology
, vol.24
, Issue.1
, pp. 53-61
-
-
Samarghitean, C.1
Valiaho, J.2
Vihinen, M.3
-
79
-
-
0034663152
-
Nonmyeloablative stem cell transplantation for congenital immunodeficiencies
-
Amrolia P, Gaspar HB, Hassan A, et al. Nonmyeloablative stem cell transplantation for congenital immunodeficiencies. Blood 2000 : 96 : 1239 1246. (Pubitemid 30658449)
-
(2000)
Blood
, vol.96
, Issue.4
, pp. 1239-1246
-
-
Amrolia, P.1
Gaspar, H.B.2
Hassan, A.3
Webb, D.4
Jones, A.5
Sturt, N.6
Mieli-Vergani, G.7
Pagliuca, A.8
Mufti, G.9
Hadzic, N.10
Davies, G.11
Veys, P.12
-
81
-
-
13144249155
-
Severe combined immunodeficiency. A model disease for molecular immunology and therapy
-
DOI 10.1111/j.0105-2896.2005.00223.x
-
Fischer A, Le Deist F, Hacein-Bey-Abina S, et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev 2005 : 203 : 98 109. (Pubitemid 40179696)
-
(2005)
Immunological Reviews
, vol.203
, pp. 98-109
-
-
Fischer, A.1
Le Deist, F.2
Hacein-Bey-Abina, S.3
Andre-Schmutz, I.4
De Saint Basile, G.5
De Villartay, J.-P.6
Cavazzana-Calvo, M.7
-
82
-
-
33646049323
-
The last 80 years in primary immunodeficiency: How far have we come, how far need we go?
-
Shearer WT, Fischer A. The last 80 years in primary immunodeficiency: how far have we come, how far need we go? J Allergy Clin Immunol 2006 : 117 : 748 752.
-
(2006)
J Allergy Clin Immunol
, vol.117
, pp. 748-752
-
-
Shearer, W.T.1
Fischer, A.2
-
83
-
-
84930271830
-
Assessment of the immune system
-
2nd edn In. Ochs, H.D. Smith, C.I.E. Puck, J.M. eds
-
Chapel H, Misbah S, Webster AD. Assessment of the immune system. In : Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases, 2nd edn
-
Primary Immunodeficiency Diseases
-
-
Chapel, H.1
Misbah, S.2
Webster, A.D.3
|