-
1
-
-
12244255076
-
Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
-
Dale DC, Cottle TE, Fier CJ, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol 2003, 72:82-93.
-
(2003)
Am J Hematol
, vol.72
, pp. 82-93
-
-
Dale, D.C.1
Cottle, T.E.2
Fier, C.J.3
-
2
-
-
0002814341
-
Infantile genetic agranulocytosis
-
Kostmann R Infantile genetic agranulocytosis. Acta Paediatr Scand [suppl] 1956, 45:1-178.
-
(1956)
Acta Paediatr Scand [suppl]
, vol.45
, pp. 1-178
-
-
Kostmann, R.1
-
3
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007, 39:86-92.
-
(2007)
Nat Genet
, vol.39
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
-
4
-
-
42049117271
-
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
-
Germeshausen M, Grudzien M, Zeidler C, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008, 111:4954-4957.
-
(2008)
Blood
, vol.111
, pp. 4954-4957
-
-
Germeshausen, M.1
Grudzien, M.2
Zeidler, C.3
-
5
-
-
0029129034
-
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia
-
Dong F, Brynes R, Tidow N, et al. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 1995, 333:487-493.
-
(1995)
N Engl J Med
, vol.333
, pp. 487-493
-
-
Dong, F.1
Brynes, R.2
Tidow, N.3
-
6
-
-
47149086005
-
G-CSF receptor mutations in patients with congenital neutropenia
-
Germeshausen M, Skokowa J, Ballmaier M, et al. G-CSF receptor mutations in patients with congenital neutropenia. Curr Opin Hematol 2008, 15:332-337.
-
(2008)
Curr Opin Hematol
, vol.15
, pp. 332-337
-
-
Germeshausen, M.1
Skokowa, J.2
Ballmaier, M.3
-
7
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009, 360:32-43.
-
(2009)
N Engl J Med
, vol.360
, pp. 32-43
-
-
Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
-
8
-
-
0032757863
-
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
-
Horwitz M, Benson KF, Person RE, et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999, 23:433-436.
-
(1999)
Nat Genet
, vol.23
, pp. 433-436
-
-
Horwitz, M.1
Benson, K.F.2
Person, R.E.3
-
9
-
-
0034307655
-
Mutations in the gene encoding neutrophils elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophils elastase in congenital and cyclic neutropenia. Blood 2000, 96:2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
-
10
-
-
33847395071
-
Neutrophil elastase in cyclic and severe congenital neutropenia
-
Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007, 109:1817-1824.
-
(2007)
Blood
, vol.109
, pp. 1817-1824
-
-
Horwitz, M.S.1
Duan, Z.2
Korkmaz, B.3
-
11
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001, 27:313-317.
-
(2001)
Nat Genet
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
-
12
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003, 34:308-312.
-
(2003)
Nat Genet
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
-
13
-
-
58149142930
-
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
-
Pannicke U, Honig M, Hess I, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 2009, 41:101-105.
-
(2009)
Nat Genet
, vol.41
, pp. 101-105
-
-
Pannicke, U.1
Honig, M.2
Hess, I.3
-
14
-
-
58149144707
-
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
-
Lagresle-Peyrou C, Six EM, Picard C, et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 2009, 41:106-111.
-
(2009)
Nat Genet
, vol.41
, pp. 106-111
-
-
Lagresle-Peyrou, C.1
Six, E.M.2
Picard, C.3
-
15
-
-
0019365944
-
Human cyclic neutropenia: clinical review and long-term follow-up of patients
-
Wright DG, Dale DC, Fauci AS, et al. Human cyclic neutropenia: clinical review and long-term follow-up of patients. Medicine (Baltimore) 1981, 60:1-13.
-
(1981)
Medicine (Baltimore)
, vol.60
, pp. 1-13
-
-
Wright, D.G.1
Dale, D.C.2
Fauci, A.S.3
-
16
-
-
0023695353
-
Cyclic neutropenia: a clinical review
-
Dale DC, Hammond WP Cyclic neutropenia: a clinical review. Blood Rev 1988, 2:178-185.
-
(1988)
Blood Rev
, vol.2
, pp. 178-185
-
-
Dale, D.C.1
Hammond, W.P.2
-
17
-
-
0030459532
-
Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
-
Palmer SE, Stephens K, Dale DC Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet 1996, 66:413-422.
-
(1996)
Am J Med Genet
, vol.66
, pp. 413-422
-
-
Palmer, S.E.1
Stephens, K.2
Dale, D.C.3
-
18
-
-
0028921854
-
Congenital cyclic neutropenia
-
Souid AK Congenital cyclic neutropenia. Clin Pediatr (Phila) 1995, 34:151-155.
-
(1995)
Clin Pediatr (Phila)
, vol.34
, pp. 151-155
-
-
Souid, A.K.1
-
19
-
-
0037656291
-
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
-
Hernandez PA, Gorlin RJ, Lukens JN, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 2003, 34:70-74.
-
(2003)
Nat Genet
, vol.34
, pp. 70-74
-
-
Hernandez, P.A.1
Gorlin, R.J.2
Lukens, J.N.3
-
20
-
-
20144372356
-
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12
-
Balabanian K, Lagane B, Pablos JL, et al. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 2005, 105:2449-2457.
-
(2005)
Blood
, vol.105
, pp. 2449-2457
-
-
Balabanian, K.1
Lagane, B.2
Pablos, J.L.3
-
21
-
-
40549119478
-
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling
-
Balabanian K, Levoye A, Klemm L, et al. Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. J Clin Invest 2008, 118:1074-1084.
-
(2008)
J Clin Invest
, vol.118
, pp. 1074-1084
-
-
Balabanian, K.1
Levoye, A.2
Klemm, L.3
-
22
-
-
3042825448
-
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome
-
Gulino AV, Moratto D, Sozzani S, et al. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 2004, 104:444-452.
-
(2004)
Blood
, vol.104
, pp. 444-452
-
-
Gulino, A.V.1
Moratto, D.2
Sozzani, S.3
-
23
-
-
0031935203
-
Immune and idiopathic neutropenia
-
Dale DC Immune and idiopathic neutropenia. Curr Opin Hematol 1998, 5:33-36.
-
(1998)
Curr Opin Hematol
, vol.5
, pp. 33-36
-
-
Dale, D.C.1
-
24
-
-
0025200792
-
Maternal genomic neutrophil FcRIII deficiency leading to neonatal isoimmune neutropenia
-
Huizinga TW, Kuijpers RW, Kleijer M, et al. Maternal genomic neutrophil FcRIII deficiency leading to neonatal isoimmune neutropenia. Blood 1990, 76:1927-1932.
-
(1990)
Blood
, vol.76
, pp. 1927-1932
-
-
Huizinga, T.W.1
Kuijpers, R.W.2
Kleijer, M.3
-
25
-
-
0025873046
-
Alloimmune neonatal neutropenia due to an antibody to the neutrophil Fc-gamma receptor III with maternal deficiency of CD16 antigen
-
Stroncek DF, Skubitz KM, Plachta LB, et al. Alloimmune neonatal neutropenia due to an antibody to the neutrophil Fc-gamma receptor III with maternal deficiency of CD16 antigen. Blood 1991, 77:1572-1580.
-
(1991)
Blood
, vol.77
, pp. 1572-1580
-
-
Stroncek, D.F.1
Skubitz, K.M.2
Plachta, L.B.3
-
26
-
-
0026639802
-
Frequency of the polymorphonuclear Fc-gamma receptor III deficiency in the French population and its involvement in the development of neonatal alloimmune neutropenia
-
Fromont P, Bettaieb A, Skouri H, et al. Frequency of the polymorphonuclear Fc-gamma receptor III deficiency in the French population and its involvement in the development of neonatal alloimmune neutropenia. Blood 1992, 79:2131-2134.
-
(1992)
Blood
, vol.79
, pp. 2131-2134
-
-
Fromont, P.1
Bettaieb, A.2
Skouri, H.3
-
29
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996, 382:262-265.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.1
Nguyen, Q.A.2
Tchernev, V.T.3
-
30
-
-
0030293556
-
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
-
Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996, 14:307-311.
-
(1996)
Nat Genet
, vol.14
, pp. 307-311
-
-
Nagle, D.L.1
Karim, M.A.2
Woolf, E.A.3
-
31
-
-
0032729471
-
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
-
Introne W, Boissy RE, Gahl WA Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999, 68:283-303.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 283-303
-
-
Introne, W.1
Boissy, R.E.2
Gahl, W.A.3
-
32
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
-
Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008, 9:359-386.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 359-386
-
-
Huizing, M.1
Helip-Wooley, A.2
Westbroek, W.3
-
33
-
-
0015365620
-
The Chédiak-Higashi syndrome: studies in four patients and a review of the literature
-
Blume RS, Wolff SM The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 1972, 51:247.
-
(1972)
Medicine (Baltimore)
, vol.51
, pp. 247
-
-
Blume, R.S.1
Wolff, S.M.2
-
34
-
-
0019970508
-
Human neutrophil-specific granule deficiency: a model to assess the role of the neutrophil-specific granules in the evolution of the inflammatory response
-
Gallin JI, Fletcher MP, Seligmann BE, et al. Human neutrophil-specific granule deficiency: a model to assess the role of the neutrophil-specific granules in the evolution of the inflammatory response. Blood 1982, 59:1317-1329.
-
(1982)
Blood
, vol.59
, pp. 1317-1329
-
-
Gallin, J.I.1
Fletcher, M.P.2
Seligmann, B.E.3
-
35
-
-
0033532546
-
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon
-
Lekstrom-Himes JA, Dorman SE, Kopar P, et al. Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med 1999, 189:1847-1852.
-
(1999)
J Exp Med
, vol.189
, pp. 1847-1852
-
-
Lekstrom-Himes, J.A.1
Dorman, S.E.2
Kopar, P.3
-
36
-
-
0032582677
-
Biological role of the CCAAT/enhancer-binding protein family of transcription factors
-
Lekstrom-Himes J, Xanthopoulos KG Biological role of the CCAAT/enhancer-binding protein family of transcription factors. J Biol Chem 1998, 273:28545-28548.
-
(1998)
J Biol Chem
, vol.273
, pp. 28545-28548
-
-
Lekstrom-Himes, J.1
Xanthopoulos, K.G.2
-
37
-
-
0036134958
-
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon)
-
36-4
-
Gombart AF, Koeffler HP Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol 2002, 9. 36-4.
-
(2002)
Curr Opin Hematol
, vol.9
-
-
Gombart, A.F.1
Koeffler, H.P.2
-
38
-
-
30944466473
-
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation
-
Wynn RF, Sood M, Theilgaard-Monch K, et al. Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. Gut 2006, 55:292-296.
-
(2006)
Gut
, vol.55
, pp. 292-296
-
-
Wynn, R.F.1
Sood, M.2
Theilgaard-Monch, K.3
-
39
-
-
0034128751
-
Genetic, biochemical, and clinical features of chronic granulomatous disease
-
Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000, 79:170-200.
-
(2000)
Medicine (Baltimore)
, vol.79
, pp. 170-200
-
-
Segal, B.H.1
Leto, T.L.2
Gallin, J.I.3
-
40
-
-
0037149510
-
Killing activity of neutrophils is mediated through activation of proteases by K+ flux
-
Reeves EP, Lu H, Jacobs HL, et al. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature 2002, 416:291-297.
-
(2002)
Nature
, vol.416
, pp. 291-297
-
-
Reeves, E.P.1
Lu, H.2
Jacobs, H.L.3
-
41
-
-
70350451062
-
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity
-
Matute J, Arias A, Wright N, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 2009, 114:3309-3315.
-
(2009)
Blood
, vol.114
, pp. 3309-3315
-
-
Matute, J.1
Arias, A.2
Wright, N.3
-
42
-
-
0034040532
-
Chronic granulomatous disease: report on a national registry of 368 patients
-
Winkelstein JA, Marino MC, Johnston RB, et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore) 2000, 79:155-169.
-
(2000)
Medicine (Baltimore)
, vol.79
, pp. 155-169
-
-
Winkelstein, J.A.1
Marino, M.C.2
Johnston, R.B.3
-
43
-
-
0036186240
-
Hepatic abscess in patients with chronic granulomatous disease
-
Lublin M, Bartlett DL, Danforth DN, et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg 2002, 235:383-391.
-
(2002)
Ann Surg
, vol.235
, pp. 383-391
-
-
Lublin, M.1
Bartlett, D.L.2
Danforth, D.N.3
-
44
-
-
3442877820
-
Gastrointestinal involvement in chronic granulomatous disease
-
Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004, 114:462-468.
-
(2004)
Pediatrics
, vol.114
, pp. 462-468
-
-
Marciano, B.E.1
Rosenzweig, S.D.2
Kleiner, D.E.3
-
45
-
-
0026637097
-
The urologic manifestations of chronic granulomatous disease
-
Walther MM, Malech HL, Berman A, et al. The urologic manifestations of chronic granulomatous disease. J Urol 1992, 147:1314-1318.
-
(1992)
J Urol
, vol.147
, pp. 1314-1318
-
-
Walther, M.M.1
Malech, H.L.2
Berman, A.3
-
46
-
-
0023619786
-
Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease
-
Chin TW, Stiehm ER, Faloon J, et al. Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease. J Pediatr 1987, 111:349-352.
-
(1987)
J Pediatr
, vol.111
, pp. 349-352
-
-
Chin, T.W.1
Stiehm, E.R.2
Faloon, J.3
-
47
-
-
0023410635
-
Corticosteroids for chronic granulomatous disease
-
Quie PG, Belani KK Corticosteroids for chronic granulomatous disease. J Pediatr 1987, 111:393-394.
-
(1987)
J Pediatr
, vol.111
, pp. 393-394
-
-
Quie, P.G.1
Belani, K.K.2
-
48
-
-
0033498232
-
Chorioretinal lesions in patients and carriers of chronic granulomatous disease
-
Goldblatt D, Butcher J, Thrasher AJ, et al. Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr 1999, 134:780-783.
-
(1999)
J Pediatr
, vol.134
, pp. 780-783
-
-
Goldblatt, D.1
Butcher, J.2
Thrasher, A.J.3
-
49
-
-
0038080134
-
Chorioretinal lesions in patients with chronic granulomatous disease
-
Kim SJ, Kim JG, Yu YS Chorioretinal lesions in patients with chronic granulomatous disease. Retina 2003, 23:360-365.
-
(2003)
Retina
, vol.23
, pp. 360-365
-
-
Kim, S.J.1
Kim, J.G.2
Yu, Y.S.3
-
50
-
-
0025959088
-
Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature
-
Manzi S, Urbach AH, McCune AB, et al. Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. Arthritis Rheum 1991, 34:101-105.
-
(1991)
Arthritis Rheum
, vol.34
, pp. 101-105
-
-
Manzi, S.1
Urbach, A.H.2
McCune, A.B.3
-
51
-
-
33847684242
-
Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology
-
Cale CM, Morton L, Goldblatt D Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007, 148:79-84.
-
(2007)
Clin Exp Immunol
, vol.148
, pp. 79-84
-
-
Cale, C.M.1
Morton, L.2
Goldblatt, D.3
-
52
-
-
0347090242
-
Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation
-
Anderson-Cohen M, Holland SM, Kuhns DB, et al. Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. Clin Immunol 2003, 109:308-317.
-
(2003)
Clin Immunol
, vol.109
, pp. 308-317
-
-
Anderson-Cohen, M.1
Holland, S.M.2
Kuhns, D.B.3
-
53
-
-
0028887591
-
Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes
-
Vowells SJ, Sekhsaria S, Malech HL, et al. 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
-
54
-
-
0030045762
-
Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease
-
Vowells SJ, Fleisher TA, Sekhsaria S, et al. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr 1996, 128:104-107.
-
(1996)
J Pediatr
, vol.128
, pp. 104-107
-
-
Vowells, S.J.1
Fleisher, T.A.2
Sekhsaria, S.3
-
55
-
-
34248342558
-
Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD
-
Mauch L, Lun A, O'Gorman MR, et al. Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem 2007, 53:890-896.
-
(2007)
Clin Chem
, vol.53
, pp. 890-896
-
-
Mauch, L.1
Lun, A.2
O'Gorman, M.R.3
-
56
-
-
54949143555
-
Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype
-
Ferguson PJ, Lokuta MA, El-Shanti HI, et al. Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype. Arthritis Rheum 2008, 58(10):3264-3269.
-
(2008)
Arthritis Rheum
, vol.58
, Issue.10
, pp. 3264-3269
-
-
Ferguson, P.J.1
Lokuta, M.A.2
El-Shanti, H.I.3
-
57
-
-
0025179263
-
Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease
-
Margolis DM, Melnick DA, Alling DW, et al. Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 1990, 162:723-726.
-
(1990)
J Infect Dis
, vol.162
, pp. 723-726
-
-
Margolis, D.M.1
Melnick, D.A.2
Alling, D.W.3
-
58
-
-
0038242951
-
Itraconazole to prevent fungal infections in chronic granulomatous disease
-
Gallin JI, Alling DW, Malech HL, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 2003, 348(24):2416-2422.
-
(2003)
N Engl J Med
, vol.348
, Issue.24
, pp. 2416-2422
-
-
Gallin, J.I.1
Alling, D.W.2
Malech, H.L.3
-
59
-
-
0026090433
-
A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease
-
International Chronic Granulomatous Disease Cooperative Study Group A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med 1991, 324:509-516.
-
(1991)
N Engl J Med
, vol.324
, pp. 509-516
-
-
-
60
-
-
65349179624
-
Chronic granulomatous disease: the European experience
-
van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One 2009, 4:e5234.
-
(2009)
PLoS One
, vol.4
, pp. e5234
-
-
van den Berg, J.M.1
van Koppen, E.2
Ahlin, A.3
-
61
-
-
44649176500
-
Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease
-
Feld JJ, Hussain N, Wright EC, et al. Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology 2008, 134:1917-1926.
-
(2008)
Gastroenterology
, vol.134
, pp. 1917-1926
-
-
Feld, J.J.1
Hussain, N.2
Wright, E.C.3
-
62
-
-
0037114622
-
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000
-
Seger RA, Gungor T, Belohradsky BH, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood 2002, 100:4344-4350.
-
(2002)
Blood
, vol.100
, pp. 4344-4350
-
-
Seger, R.A.1
Gungor, T.2
Belohradsky, B.H.3
-
63
-
-
33645734405
-
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1
-
Ott MG, Schmidt M, Schwarzwaelder K, et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 2006, 12:401-409.
-
(2006)
Nat Med
, vol.12
, pp. 401-409
-
-
Ott, M.G.1
Schmidt, M.2
Schwarzwaelder, K.3
-
64
-
-
34250185398
-
Advances in the treatment of chronic granulomatous disease by gene therapy
-
Ott MG, Seger R, Stein S, et al. Advances in the treatment of chronic granulomatous disease by gene therapy. Curr Gene Ther 2007, 7:155-161.
-
(2007)
Curr Gene Ther
, vol.7
, pp. 155-161
-
-
Ott, M.G.1
Seger, R.2
Stein, S.3
-
66
-
-
0026011408
-
Myeloperoxidase deficiency as a predisposing factor for deep mucocutaneous candidiasis: a case report
-
Okuda T, Yasuoka T, Oka N Myeloperoxidase deficiency as a predisposing factor for deep mucocutaneous candidiasis: a case report. J Oral Maxillofac Surg 1991, 49:183-186.
-
(1991)
J Oral Maxillofac Surg
, vol.49
, pp. 183-186
-
-
Okuda, T.1
Yasuoka, T.2
Oka, N.3
-
67
-
-
0027460232
-
Candida albicans meningitis in a child with myeloperoxidase deficiency
-
Ludviksson BR, Thorarensen O, Gudnason T, et al. Candida albicans meningitis in a child with myeloperoxidase deficiency. Pediatr Infect Dis J 1993, 12:162-164.
-
(1993)
Pediatr Infect Dis J
, vol.12
, pp. 162-164
-
-
Ludviksson, B.R.1
Thorarensen, O.2
Gudnason, T.3
-
68
-
-
0031056469
-
Myeloperoxidase deficiency manifesting as pustular candidal dermatitis
-
Nguyen C, Katner HP Myeloperoxidase deficiency manifesting as pustular candidal dermatitis. Clin Infect Dis 1997, 24:258-260.
-
(1997)
Clin Infect Dis
, vol.24
, pp. 258-260
-
-
Nguyen, C.1
Katner, H.P.2
-
69
-
-
0033761019
-
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate
-
Chiang AK, Chan GC, Ma SK, et al. Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. Pediatr Infect Dis J 2000, 19:1027-1029.
-
(2000)
Pediatr Infect Dis J
, vol.19
, pp. 1027-1029
-
-
Chiang, A.K.1
Chan, G.C.2
Ma, S.K.3
-
70
-
-
61449182612
-
Leukocyte trafficking in primary immunodeficiencies
-
Notarangelo LD, Badolato R Leukocyte trafficking in primary immunodeficiencies. J Leukoc Biol 2009, 85:335-343.
-
(2009)
J Leukoc Biol
, vol.85
, pp. 335-343
-
-
Notarangelo, L.D.1
Badolato, R.2
-
71
-
-
0022387222
-
The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features
-
Anderson DC, Schmalsteig FC, Finegold MJ, et al. The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis 1985, 152:668-689.
-
(1985)
J Infect Dis
, vol.152
, pp. 668-689
-
-
Anderson, D.C.1
Schmalsteig, F.C.2
Finegold, M.J.3
-
72
-
-
0030885763
-
Leukocyte adhesion deficiency type 1 (LAD/1)/variant
-
Kuijpers TW, van Lier RAW, Hamann D, et al. Leukocyte adhesion deficiency type 1 (LAD/1)/variant. J Clin Invest 1997, 100:1725-1733.
-
(1997)
J Clin Invest
, vol.100
, pp. 1725-1733
-
-
Kuijpers, T.W.1
van Lier, R.A.W.2
Hamann, D.3
-
73
-
-
0032922549
-
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1
-
Hogg N, Stewart MP, Scarth SL, et al. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. J Clin Invest 1999, 103:97-106.
-
(1999)
J Clin Invest
, vol.103
, pp. 97-106
-
-
Hogg, N.1
Stewart, M.P.2
Scarth, S.L.3
-
74
-
-
38049139199
-
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)
-
Uzel G, Tng E, Rosenzweig SD, et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood 2008, 111(1):209-218.
-
(2008)
Blood
, vol.111
, Issue.1
, pp. 209-218
-
-
Uzel, G.1
Tng, E.2
Rosenzweig, S.D.3
-
75
-
-
0029126818
-
Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency
-
Thomas C, Le Deist F, Cavazzana-Calvo M, et al. Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 1995, 86:1629-1635.
-
(1995)
Blood
, vol.86
, pp. 1629-1635
-
-
Thomas, C.1
Le Deist, F.2
Cavazzana-Calvo, M.3
-
76
-
-
1242274615
-
Leukocyte adhesion deficiency in children and Irish setter dogs
-
Bauer TR, Gu YC, Creevy KE, et al. Leukocyte adhesion deficiency in children and Irish setter dogs. Pediatr Res 2004, 55:363-367.
-
(2004)
Pediatr Res
, vol.55
, pp. 363-367
-
-
Bauer, T.R.1
Gu, Y.C.2
Creevy, K.E.3
-
77
-
-
0035036072
-
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-glucose transporter deficiency
-
Lübke T, Marquardt T, Etzioni A, et al. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-glucose transporter deficiency. Nat Genet 2001, 28:73-76.
-
(2001)
Nat Genet
, vol.28
, pp. 73-76
-
-
Lübke, T.1
Marquardt, T.2
Etzioni, A.3
-
78
-
-
0035036832
-
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
-
Lühn K, Wild MK, Eckhardt M, et al. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet 2001, 28:69-72.
-
(2001)
Nat Genet
, vol.28
, pp. 69-72
-
-
Lühn, K.1
Wild, M.K.2
Eckhardt, M.3
-
80
-
-
0032763425
-
Correction of leukocyte adhesion deficiency type II with oral glucose
-
Marquardt T, Luhn K, Srikrishna G, et al. Correction of leukocyte adhesion deficiency type II with oral glucose. Blood 1999, 94:3976-3985.
-
(1999)
Blood
, vol.94
, pp. 3976-3985
-
-
Marquardt, T.1
Luhn, K.2
Srikrishna, G.3
-
81
-
-
85088001150
-
Glucose supplementation in leukocyte adhesion deficiency type II (letter)
-
Etzioni A, Tonetti M Glucose supplementation in leukocyte adhesion deficiency type II (letter). Blood 2000, 95:3641-3642.
-
(2000)
Blood
, vol.95
, pp. 3641-3642
-
-
Etzioni, A.1
Tonetti, M.2
-
82
-
-
55249083592
-
Kindlin-3: a new gene involved in the pathogenesis of LAD-III
-
Mory A, Feigelson SW, Yarali N, et al. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood 2008, 112:2591.
-
(2008)
Blood
, vol.112
, pp. 2591
-
-
Mory, A.1
Feigelson, S.W.2
Yarali, N.3
-
83
-
-
66549121768
-
LAD-1/variant syndrome is caused by mutations in FERMT3
-
Kuijpers TW, van de Vijver E, Weterman MA, et al. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood 2009, 113:4740-4746.
-
(2009)
Blood
, vol.113
, pp. 4740-4746
-
-
Kuijpers, T.W.1
van de Vijver, E.2
Weterman, M.A.3
-
84
-
-
12944284786
-
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
-
Ambruso DR, Knall C, Abell AN, et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A 2000, 97:4654-4659.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 4654-4659
-
-
Ambruso, D.R.1
Knall, C.2
Abell, A.N.3
-
85
-
-
0034283717
-
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency
-
Williams DA, Tao W, Yang F, et al. Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood 2000, 96:1646-1654.
-
(2000)
Blood
, vol.96
, pp. 1646-1654
-
-
Williams, D.A.1
Tao, W.2
Yang, F.3
-
86
-
-
57149141634
-
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
-
e16
-
Hanson EP, Monaco-Shawver L, Solt LA, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008, 122:1169-1177. e16.
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1169-1177
-
-
Hanson, E.P.1
Monaco-Shawver, L.2
Solt, L.A.3
-
87
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
-
Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000, 405:466-472.
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
-
88
-
-
33746710391
-
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling
-
Haverkamp MH, van Dissel JT, Holland SM Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling. Microbes Infect 2006, 8(4):1157-1166.
-
(2006)
Microbes Infect
, vol.8
, Issue.4
, pp. 1157-1166
-
-
Haverkamp, M.H.1
van Dissel, J.T.2
Holland, S.M.3
-
89
-
-
57149144518
-
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
-
Al-Muhsen S, Casanova JL The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol 2008, 122(6):1043-1051.
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.6
, pp. 1043-1051
-
-
Al-Muhsen, S.1
Casanova, J.L.2
-
90
-
-
0032948177
-
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
-
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 1999, 21:370-378.
-
(1999)
Nat Genet
, vol.21
, pp. 370-378
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Lammas, D.3
-
91
-
-
0037450808
-
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications
-
Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003, 197:527-535.
-
(2003)
J Exp Med
, vol.197
, pp. 527-535
-
-
Fieschi, C.1
Dupuis, S.2
Catherinot, E.3
-
92
-
-
0032899422
-
Detection of intracellular phosphorylated STAT-1 by flow cytometry
-
Fleisher AT, Dorman SE, Anderson JA, et al. Detection of intracellular phosphorylated STAT-1 by flow cytometry. Clin Immunol 1999, 90:425-430.
-
(1999)
Clin Immunol
, vol.90
, pp. 425-430
-
-
Fleisher, A.T.1
Dorman, S.E.2
Anderson, J.A.3
-
93
-
-
0034874691
-
Detection of intracellular phosphorylated STAT-4 by flow cytometry
-
Uzel G, Frucht DM, Fleisher A, et al. Detection of intracellular phosphorylated STAT-4 by flow cytometry. Clin Immunol 2001, 100:270-276.
-
(2001)
Clin Immunol
, vol.100
, pp. 270-276
-
-
Uzel, G.1
Frucht, D.M.2
Fleisher, A.3
-
94
-
-
0033522220
-
Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder
-
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.
-
(1999)
N Engl J Med
, vol.340
, pp. 692-702
-
-
Grimbacher, B.1
Holland, S.M.2
Gallin, J.I.3
-
95
-
-
34548317417
-
Dominant negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi Y, Saito M, Tsuchiya S, et al. Dominant negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448:1058-1062.
-
(2007)
Nature
, vol.448
, pp. 1058-1062
-
-
Minegishi, Y.1
Saito, M.2
Tsuchiya, S.3
-
98
-
-
33846829769
-
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome
-
Ling JC, Freeman AF, Gharib AM, et al. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol 2007, 122:255-258.
-
(2007)
Clin Immunol
, vol.122
, pp. 255-258
-
-
Ling, J.C.1
Freeman, A.F.2
Gharib, A.M.3
-
99
-
-
34248206159
-
Brain abnormalities in patients with hyperimmunoglobulin E syndrome
-
Freeman AF, Collura-Burke CJ, Patronas NJ, et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 2007, 119:e1121-e1125.
-
(2007)
Pediatrics
, vol.119
, pp. e1121-e1125
-
-
Freeman, A.F.1
Collura-Burke, C.J.2
Patronas, N.J.3
-
100
-
-
11444250326
-
Non-Hodgkin's lymphoma in Job's syndrome: a case report and review of the literature
-
Leonard GD, Posadas E, Herrmann PC, et al. Non-Hodgkin's lymphoma in Job's syndrome: a case report and review of the literature. Leuk Lymphoma 2004, 45:2521-2525.
-
(2004)
Leuk Lymphoma
, vol.45
, pp. 2521-2525
-
-
Leonard, G.D.1
Posadas, E.2
Herrmann, P.C.3
-
101
-
-
9144261081
-
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
-
Renner ED, Puck JM, Holland SM, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004, 144:93-99.
-
(2004)
J Pediatr
, vol.144
, pp. 93-99
-
-
Renner, E.D.1
Puck, J.M.2
Holland, S.M.3
-
102
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009, 361.
-
(2009)
N Engl J Med
, vol.361
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
-
103
-
-
71149115670
-
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
-
Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009, 124:1289-1302.
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 1289-1302
-
-
Engelhardt, K.R.1
McGhee, S.2
Winkler, S.3
-
104
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
Minegishi Y, Saito M, Morio T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25(5):745-755.
-
(2006)
Immunity
, vol.25
, Issue.5
, pp. 745-755
-
-
Minegishi, Y.1
Saito, M.2
Morio, T.3
-
105
-
-
70350534272
-
Human dectin-1 deficiency and mucocutaneous fungal infections
-
Ferwerda B, Ferwerda G, Plantinga TS, et al. Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med 2009, 361:1760-1767.
-
(2009)
N Engl J Med
, vol.361
, pp. 1760-1767
-
-
Ferwerda, B.1
Ferwerda, G.2
Plantinga, T.S.3
-
106
-
-
70350545720
-
A homozygous CARD9 mutation in a family with susceptibility to fungal infections
-
Glocker EO, Hennigs A, Nabavi M, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 2009, 361:1727-1735.
-
(2009)
N Engl J Med
, vol.361
, pp. 1727-1735
-
-
Glocker, E.O.1
Hennigs, A.2
Nabavi, M.3
|