{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T17:42:56Z","timestamp":1726249376726},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Curr Allergy Asthma Rep"],"published-print":{"date-parts":[[2002,9]]},"DOI":"10.1007\/s11882-002-0071-5","type":"journal-article","created":{"date-parts":[[2007,6,2]],"date-time":"2007-06-02T21:53:40Z","timestamp":1180821220000},"page":"385-391","source":"Crossref","is-referenced-by-count":6,"title":["White blood cell defects: Molecular discoveries and clinical management"],"prefix":"10.1007","volume":"2","author":[{"given":"Gulbu","family":"Uzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven M.","family":"Holland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"71_CR1","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1086\/301750","volume":"62","author":"F Altare","year":"1998","unstructured":"Altare F, Jouanguy E, Lamhamedi-Cherradi S, et al.: A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child [Letter]. Am J Hum Genet 1998, 62:723\u2013726.","journal-title":"Am J Hum Genet"},{"key":"71_CR2","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1086\/515670","volume":"178","author":"SM Holland","year":"1998","unstructured":"Holland SM, Dorman SE, Kwon A, et al.: Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J Infect Dis 1998, 178:1095\u20131104.","journal-title":"J Infect Dis"},{"key":"71_CR3","doi-asserted-by":"publisher","first-page":"1941","DOI":"10.1056\/NEJM199612263352602","volume":"335","author":"MJ Newport","year":"1996","unstructured":"Newport MJ, Huxley CM, Huston S, et al.: A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 335:1941\u20131949. This is one of the first reports linking susceptibility to mycobacterial infections to mutations in IFN\u00e3R1.","journal-title":"N Engl J Med"},{"key":"71_CR4","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1056\/NEJM199612263352604","volume":"335","author":"E Jouanguy","year":"1996","unstructured":"Jouanguy E, Altare F, Lamhamedi S, et al.: Interferon-gammareceptor deficiency in an infant with fatal bacille Calmette-Gu\u00e9rin infection. N Engl J Med 1996, 335:1956\u20131961. This is one of the first reports linking susceptibility to mycobacterial infections to mutations in IFN\u00e3R1.","journal-title":"N Engl J Med"},{"key":"71_CR5","first-page":"415","volume":"1","author":"S Lamhamedi","year":"1998","unstructured":"Lamhamedi S, Jouanguy E, Altare F, et al.: Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype [Review]. Int J Mol Med 1998, 1:415\u2013418.","journal-title":"Int J Mol Med"},{"key":"71_CR6","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/S0952-7915(98)80114-3","volume":"10","author":"F Altare","year":"1998","unstructured":"Altare F, Jouanguy E, Lamhamedi S, et al.: Mendelian susceptibility to mycobacterial infection in man. Curr Opin Immunol 1998, 10:413\u2013417.","journal-title":"Curr Opin Immunol"},{"key":"71_CR7","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1016\/S0301-472X(99)00077-6","volume":"27","author":"J Roesler","year":"1999","unstructured":"Roesler J, Kofink B, Wendisch J, et al.: Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol 1999, 27:1368\u20131374.","journal-title":"Exp Hematol"},{"key":"71_CR8","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1016\/S0022-3476(99)70064-8","volume":"135","author":"SE Dorman","year":"1999","unstructured":"Dorman SE, Uzel G, Roesler J, et al.: Viral infections in interferon-gamma receptor deficiency [Comments]. J Pediatr 1999, 135:640\u2013643.","journal-title":"J Pediatr"},{"key":"71_CR9","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1084\/jem.181.5.1615","volume":"181","author":"IE Flesch","year":"1995","unstructured":"Flesch IE, Hess JH, Huang S, et al.: Early interleukin 12 production by macrophages in response to mycobacterial infection depends on interferon gamma and tumor necrosis factor alpha. J Exp Med 1995, 181:1615\u20131621.","journal-title":"J Exp Med"},{"key":"71_CR10","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1126\/science.8197455","volume":"264","author":"JE Darnell Jr.","year":"1994","unstructured":"Darnell JE Jr., Kerr IM, Stark GR: Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins. Science 1994, 264:1415\u20131421.","journal-title":"Science"},{"key":"71_CR11","doi-asserted-by":"publisher","first-page":"1808","DOI":"10.1126\/science.1281555","volume":"258","author":"K Shuai","year":"1992","unstructured":"Shuai K, Schindler C, Prezioso VR, Darnell JE Jr.: Activation of transcription by IFN-gamma: tyrosine phosphorylation of a 91-kD DNA binding protein. Science 1992, 258:1808\u20131812.","journal-title":"Science"},{"key":"71_CR12","doi-asserted-by":"publisher","first-page":"1744","DOI":"10.1126\/science.7690989","volume":"261","author":"K Shuai","year":"1993","unstructured":"Shuai K, Stark GR, Kerr IM, Darnell JE, Jr.: A single phosphotyrosine residue of Stat91 required for gene activation by interferon-gamma [Comments]. Science 1993, 261:1744\u20131746.","journal-title":"Science"},{"key":"71_CR13","doi-asserted-by":"crossref","first-page":"2892","DOI":"10.4049\/jimmunol.150.7.2892","volume":"150","author":"H Gan","year":"1993","unstructured":"Gan H, Newman G, McCarthy PL, Remold HG: TNF-alpha response of human monocyte-derived macrophages to Mycobacterium avium, serovar 4, is of brief duration and protein kinase C dependent. J Immunol 1993, 150:2892\u20132900.","journal-title":"J Immunol"},{"key":"71_CR14","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1172\/JCI9166","volume":"105","author":"E Jouanguy","year":"2000","unstructured":"Jouanguy E, Dupuis S, Pallier A, et al.: In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 2000, 105:1429\u20131436.","journal-title":"J Clin Invest"},{"key":"71_CR15","doi-asserted-by":"publisher","first-page":"2364","DOI":"10.1172\/JCI2901","volume":"101","author":"SE Dorman","year":"1998","unstructured":"Dorman SE, Holland SM: Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 1998, 101:2364\u20132369. This is the first report linking susceptibility to mycobacterial infections to mutations in IFN\u00e3R2.","journal-title":"J Clin Invest"},{"key":"71_CR16","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/S0022-3476(99)70050-8","volume":"135","author":"JL Casanova","year":"1999","unstructured":"Casanova JL, Ochs H: Interferon-gamma receptor deficiency: An expanding clinical phenotype? J Pediatr 1999, 135:543\u2013545.","journal-title":"J Pediatr"},{"key":"71_CR17","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1006\/clim.1998.4654","volume":"90","author":"TA Fleisher","year":"1999","unstructured":"Fleisher TA, Dorman SE, Anderson JA, et al.: Detection of intracellular phosphorylated STAT-1 by flow cytometry. Clin Immunol 1999, 90:425\u2013430.","journal-title":"Clin Immunol"},{"key":"71_CR18","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1172\/JCI119810","volume":"100","author":"E Jouanguy","year":"1997","unstructured":"Jouanguy E, Lamhamedi-Cherradi S, et al.: Partial interferongamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Gu\u00e9rin infection and a sibling with clinical tuberculosis. J Clin Invest 1997, 100:2658\u20132664.","journal-title":"J Clin Invest"},{"key":"71_CR19","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1086\/315197","volume":"181","author":"R Doffinger","year":"2000","unstructured":"Doffinger R, Jouanguy E, Dupuis S, et al.: Partial interferongamma receptor signaling chain deficiency in a patient with bacille Calmette-Gu\u00e9rin and Mycobacterium abscessus infection. J Infect Dis 2000, 181:379\u2013384.","journal-title":"J Infect Dis"},{"key":"71_CR20","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/7701","volume":"21","author":"E Jouanguy","year":"1999","unstructured":"Jouanguy E, Lamhamedi-Cherradi S, Lammas D, et al.: A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection [Comments]. Nat Genet 1999, 21:370\u2013378. This report describes18 patients from several generations of 12 unrelated families who are heterozygous for a IFNGR1 frameshift deletion at the same site, defining a small deletion hotspot that confers dominant susceptibility to infections caused by mycobacteria.","journal-title":"Nat Genet"},{"key":"71_CR21","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/7663","volume":"21","author":"S Foote","year":"1999","unstructured":"Foote S: Mediating immunity to mycobacteria [news; comment]. Nat Genet 1999, 21:345\u2013346.","journal-title":"Nat Genet"},{"key":"71_CR22","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1046\/j.1525-1381.1999.99242.x","volume":"111","author":"M Levin","year":"1999","unstructured":"Levin M, Newport M: Understanding the genetic basis of susceptibility to mycobacterial infection. Proc Assoc Am Physicians 1999, 111:308\u2013312.","journal-title":"Proc Assoc Am Physicians"},{"key":"71_CR23","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/S0167-5699(98)01321-8","volume":"19","author":"TH Ottenhoff","year":"1998","unstructured":"Ottenhoff TH, Kumararatne D, Casanova JL: Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria. Immunol Today 1998, 19:491\u2013494.","journal-title":"Immunol Today"},{"key":"71_CR24","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1126\/science.280.5368.1435","volume":"280","author":"R de Jong","year":"1998","unstructured":"de Jong R, Altare F, Haagen IA, et al.: Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 1998, 280:1435\u20131438. One of the first reports of interleukin-12 receptor-deficiency as the cause of severe mycobacterial and Salmonella infections in humans.","journal-title":"Science"},{"key":"71_CR25","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1126\/science.280.5368.1432","volume":"280","author":"F Altare","year":"1998","unstructured":"Altare F, Durandy A, Lammas D, et al.: Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998, 280:1432\u20131435. One of the first reports of interleukin-12 receptor-deficiency as the cause of severe mycobacterial and Salmonella infections in humans.","journal-title":"Science"},{"key":"71_CR26","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1006\/clim.2001.5078","volume":"100","author":"G Uzel","year":"2001","unstructured":"Uzel G, Frucht DM, Fleisher TA, Holland SM: Detection of intracellular phosphorylated STAT-4 by flow cytometry. Clin Immunol 2001, 100:270\u2013276.","journal-title":"Clin Immunol"},{"key":"71_CR27","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1172\/JCI4950","volume":"102","author":"F Altare","year":"1998","unstructured":"Altare F, Lammas D, Revy P, et al.: Inherited interleukin 12 deficiency in a child with bacille Calmette-Gu\u00e9rin and Salmonella enteritidis disseminated infection. J Clin Invest 1998, 102:2035\u20132040. This paper reports the first case of a genetic defect in IL-12p40. It gives a cellular, histopathologic, and clinical description of this deficiency.","journal-title":"J Clin Invest"},{"key":"71_CR28","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1086\/338625","volume":"70","author":"C Picard","year":"2002","unstructured":"Picard C, Fieschi C, Altare F, et al.: Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002, 70:336\u2013348.","journal-title":"Am J Hum Genet"},{"key":"71_CR29","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1126\/science.1061154","volume":"293","author":"S Dupuis","year":"2001","unstructured":"Dupuis S, Dargemont C, Fieschi C, et al.: Impairment of mycobacterial but not viral immunity by a germline human STAT-1 mutation. Science 2001, 293:300\u2013303. This is the first report of a dominant germline STAT-1 mutation associated with susceptibility to mycobacterial infections. Importantly, viral infections do not appear to be increased.","journal-title":"Science"},{"key":"71_CR30","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/85277","volume":"2","author":"A Jain","year":"2001","unstructured":"Jain A, Ma CA, Liu S, et al.: Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001, 2:223\u2013228. The immunologic effects of mutations in NEMO are linked to the clinical phenotype of ectodermal dysplasia with humoral immunodeficiency due to abnormal immunoglobulin class switching.","journal-title":"Nat Immunol"},{"key":"71_CR31","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/85837","volume":"27","author":"R Doffinger","year":"2001","unstructured":"Doffinger R, Smahi A, Bessia C, et al.: X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001, 27:277\u2013285. A large collection of patients who have mutations in NEMO with ectodermal dysplasia and immunodeficiency, highlighting the genotype-phenotype correlations, and the broad spectrum of susceptibility to infectious agents.","journal-title":"Nat Genet"},{"key":"71_CR32","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/ng0895-409","volume":"13","author":"J Kere","year":"1996","unstructured":"Kere J, Srivastava AK, Montonen O, et al.: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. [Comments]. Nat Genet 1996, 13:409\u2013416.","journal-title":"Nat Genet"},{"key":"71_CR33","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1038\/11937","volume":"22","author":"AW Monreal","year":"1999","unstructured":"Monreal AW, Ferguson BM, Headon DJ, et al.: Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. [Comments]. Nat Genet 1999, 22:366\u2013369.","journal-title":"Nat Genet"},{"key":"71_CR34","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/S0022-3476(79)80343-1","volume":"94","author":"A Komiyama","year":"1979","unstructured":"Komiyama A, Morosawa H, Nakahata T, et al.: Abnormal neutrophil maturation in a neutrophil defect with morphologic abnormality and impaired function. J Pediatr 1979, 94:19\u201325.","journal-title":"J Pediatr"},{"key":"71_CR35","first-page":"413","volume":"99","author":"J Breton-Gorius","year":"1980","unstructured":"Breton-Gorius J, Mason DY, Buriot D, et al.: Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy. Am J Pathol 1980, 99:413\u2013428.","journal-title":"Am J Pathol"},{"key":"71_CR36","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1056\/NEJM198208123070704","volume":"307","author":"LA Boxer","year":"1982","unstructured":"Boxer LA, Coates TD, Haak RA, et al.: Lactoferrin deficiency associated with altered granulocyte function. N Engl J Med 1982, 307:404\u2013410.","journal-title":"N Engl J Med"},{"key":"71_CR37","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/BF00915283","volume":"4","author":"DR Ambruso","year":"1984","unstructured":"Ambruso DR, Sasada M, Nishiyama H, et al.: Defective bactericidal activity and absence of specific granules in neutrophils from a patient with recurrent bacterial infections. J Clin Immunol 1984, 4:23\u201330.","journal-title":"J Clin Immunol"},{"key":"71_CR38","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1182\/blood.V59.6.1317.1317","volume":"59","author":"JI Gallin","year":"1982","unstructured":"Gallin JI, Fletcher MP, Seligmann BE, et al.: Human neutrophilspecific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response. Blood 1982, 59:1317\u20131329.","journal-title":"Blood"},{"key":"71_CR39","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/ajh.2830180306","volume":"18","author":"N Borregaard","year":"1985","unstructured":"Borregaard N, Boxer LA, Smolen JE, Tauber AI: Anomalous neutrophil granule distribution in a patient with lactoferrin deficiency: pertinence to the respiratory burst. Am J Hematol 1985, 18:255\u2013260.","journal-title":"Am J Hematol"},{"key":"71_CR40","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1172\/JCI113631","volume":"82","author":"T Ganz","year":"1988","unstructured":"Ganz T, Metcalf JA, Gallin JI, et al.: Microbicidal\/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and \u201cspecific\u201d granule deficiency. J Clin Invest 1988, 82: 552\u2013556.","journal-title":"J Clin Invest"},{"key":"71_CR41","first-page":"137","volume":"59","author":"A Tamura","year":"1994","unstructured":"Tamura A, Agematsu K, Mori T, et al.: A marked decrease in defensin mRNA in the only case of congenital neutrophilspecific granule deficiency reported in Japan. Int J Hematol 1994, 59:137\u2013142.","journal-title":"Int J Hematol"},{"key":"71_CR42","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/0268-960X(89)90004-0","volume":"3","author":"KJ Lomax","year":"1989","unstructured":"Lomax KJ, Malech HL, Gallin JI: The molecular biology of selected phagocyte defects. Blood Rev 1989, 3:94\u2013104.","journal-title":"Blood Rev"},{"key":"71_CR43","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/ajh.2830430216","volume":"43","author":"T Sakura","year":"1993","unstructured":"Sakura T, Murakami H, Matsushima T, et al.: Ultrastructure of neutrophilic phagosome of autologous platelet in vivo in specific granule deficiency. Am J Hematol 1993, 43:149\u2013150.","journal-title":"Am J Hematol"},{"key":"71_CR44","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1182\/blood.V82.1.268.bloodjournal821268","volume":"82","author":"HF Rosenberg","year":"1993","unstructured":"Rosenberg HF, Gallin JI: Neutrophil-specific granule deficiency includes eosinophils. Blood 1993, 82:268\u2013273.","journal-title":"Blood"},{"key":"71_CR45","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1055\/s-0038-1648440","volume":"67","author":"RI Parker","year":"1992","unstructured":"Parker RI, McKeown LP, Gallin JI, Gralnick HR: Absence of the largest platelet-von Willebrand multimers in a patient with lactoferrin deficiency and a bleeding tendency. Thromb Haemost 1992, 67:320\u2013324.","journal-title":"Thromb Haemost"},{"key":"71_CR46","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1172\/JCI113912","volume":"83","author":"KJ Lomax","year":"1989","unstructured":"Lomax KJ, Gallin JI, Rotrosen D, et al.: Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. J Clin Invest 1989, 83:514\u2013519.","journal-title":"J Clin Invest"},{"key":"71_CR47","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gad.5.9.1553","volume":"5","author":"SC Williams","year":"1991","unstructured":"Williams SC, Cantwell CA, Johnson PF: A family of C\/EBPrelated proteins capable of forming covalently linked leucine zipper dimers in vitro. Genes Dev 1991, 5:1553\u20131567.","journal-title":"Genes Dev"},{"key":"71_CR48","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1084\/jem.189.11.1847","volume":"189","author":"JA Lekstrom-Himes","year":"1999","unstructured":"Lekstrom-Himes JA, Dorman SE, Kopar P, et al.: Neutrophilspecific 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\u20131852. The first report of an underlying molecular defect for neutrophilspecific granule deficiency. A 5bp deletion in the second exon of C\/EBP\u00e5 results in a truncation and abnormal myeloid maturation, including defects in granule synthesis.","journal-title":"J Exp Med"},{"key":"71_CR49","doi-asserted-by":"publisher","first-page":"2561","DOI":"10.1182\/blood.V97.9.2561","volume":"97","author":"AF Gombart","year":"2001","unstructured":"Gombart AF, Shiohara M, Kwok SH, et al.: Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT\/enhancer binding protein\u2014epsilon. Blood 2001, 97:2561\u20132567.","journal-title":"Blood"},{"key":"71_CR50","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/S0952-7915(00)00254-5","volume":"13","author":"AA Aprikyan","year":"2001","unstructured":"Aprikyan AA, Dale DC: Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia. Curr Opin Immunol 2001, 13:535\u2013538.","journal-title":"Curr Opin Immunol"},{"key":"71_CR51","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/S0031-3955(05)70432-6","volume":"43","author":"JC Bernini","year":"1996","unstructured":"Bernini JC: Diagnosis and management of chronic neutropenia during childhood. Pediatr Clin North Am 1996, 43:773\u2013792.","journal-title":"Pediatr Clin North Am"},{"key":"71_CR52","doi-asserted-by":"crossref","first-page":"2629","DOI":"10.1182\/blood.V92.8.2629","volume":"92","author":"C Haurie","year":"1998","unstructured":"Haurie C, Dale DC, Mackey MC: Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models [Comments]. Blood 1998, 92:2629\u20132640.","journal-title":"Blood"},{"key":"71_CR53","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1651-2227.1956.tb06875.x","volume":"45","author":"R Kostmann","year":"1956","unstructured":"Kostmann R: Infantile genetic agranulocytosis. Acta Pediatr Scan 1956, 45:1\u201378.","journal-title":"Acta Pediatr Scan"},{"key":"71_CR54","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1007\/s002770050156","volume":"72","author":"K Welte","year":"1996","unstructured":"Welte K, Dale D: Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 1996, 72:158\u2013165.","journal-title":"Ann Hematol"},{"key":"71_CR55","first-page":"267","volume":"34","author":"K Welte","year":"1997","unstructured":"Welte K, Boxer LA: Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol 1997, 34:267\u2013278.","journal-title":"Semin Hematol"},{"key":"71_CR56","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/70544","volume":"23","author":"M Horwitz","year":"1999","unstructured":"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\u2013436. Using genome-wide screening and positional cloning, the authors mapped cyclic neutropenia to neutrophil elastase (ELA2) on chromosome 19p13.3, and identified seven different single-base substitutions.","journal-title":"Nat Genet"},{"key":"71_CR57","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1182\/blood.V96.7.2317","volume":"96","author":"DC Dale","year":"2000","unstructured":"Dale DC, Person RE, Bolyard AA, et al.: Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. [Comments]. Blood 2000, 96:2317\u20132322. Neutrophil elastase (ELA2) mutations are identified as the genetic cause of congenital neutopenia as well as cyclic neutropenia.","journal-title":"Blood"},{"key":"71_CR58","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L","volume":"66","author":"SE Palmer","year":"1996","unstructured":"Palmer SE, Stephens K, Dale DC: Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet 1996, 66:413\u2013422.","journal-title":"Am J Med Genet"},{"key":"71_CR59","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1073\/pnas.86.1.7","volume":"86","author":"MA Navia","year":"1989","unstructured":"Navia MA, McKeever BM, Springer JP, et al.: Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution. Proc Natl Acad Sci U S A 1989, 86:7\u201311.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"71_CR60","first-page":"429","volume":"96","author":"MH Freedman","year":"2000","unstructured":"Freedman MH, Bonilla MA, Fier C, et al.: Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000, 96:429\u2013436.","journal-title":"Blood"}],"container-title":["Current Allergy and Asthma Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11882-002-0071-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11882-002-0071-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11882-002-0071-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11882-002-0071-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T19:01:59Z","timestamp":1707937319000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11882-002-0071-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9]]},"references-count":60,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,9]]}},"alternative-id":["71"],"URL":"https:\/\/doi.org\/10.1007\/s11882-002-0071-5","relation":{},"ISSN":["1529-7322","1534-6315"],"issn-type":[{"value":"1529-7322","type":"print"},{"value":"1534-6315","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9]]}}}