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REFERENCES Ochs HD, Smith CI. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore) 1996; 75:287. Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol 2000; 19:183. Ochs HD, Stiehm ER, Winkelstein JA. Antibody deficiencies. In: Immmunologic disorders in infants and children, 5th ed, Stiehm ER, Ochs HD, Winkelstein JA (Eds), Elsevier/Sanders, Philadelphia 2004. p.356. Tsukada S, Saffran DC, Rawlings DJ, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993; 72:279. Vetrie D, Vorechovský I, Sideras P, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993; 361:226. Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006; 85:193. BRUTON OC. Agammaglobulinemia. Pediatrics 1952; 9:722. Lindvall JM, Blomberg KE, Väliaho J, et al. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev 2005; 203:200. 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. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985; 64:145. Plebani A, Soresina A, Rondelli R, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol 2002; 104:221. Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 2002; 141:566. Hermaszewski RA, Webster AD. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med 1993; 86:31. Morales-Aza B, Glennie SJ, Garcez TP, et al. Impaired maintenance of naturally acquired T-cell memory to the meningococcus in patients with B-cell immunodeficiency. Blood 2009; 113:4206. Hashimoto S, Miyawaki T, Futatani T, et al. Atypical X-linked agammaglobulinemia diagnosed in three adults. Intern Med 1999; 38:722. Kornfeld SJ, Haire RN, Strong SJ, et al. Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family. J Allergy Clin Immunol 1997; 100:702.
Morales-Aza B, Glennie SJ, Garcez TP, et al. Impaired maintenance of naturally acquired T-cell memory to the meningococcus in patients with B-cell immunodeficiency. Blood 2009; 113:4206. Hashimoto S, Miyawaki T, Futatani T, et al. Atypical X-linked agammaglobulinemia diagnosed in three adults. Intern Med 1999; 38:722. Kornfeld SJ, Haire RN, Strong SJ, et al. Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family. J Allergy Clin Immunol 1997; 100:702. Morwood K, Bourne H, Gold M, et al. Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia. J Allergy Clin Immunol 2004; 113:783. Sarpong S, Skolnick HS, Ochs HD, et al. Survival of wild polio by a patient with XLA. Ann Allergy Asthma Immunol 2002; 88:59. Stewart DM, Tian L, Nelson DL. A case of X-linked agammaglobulinemia diagnosed in adulthood. Clin Immunol 2001; 99:94. Usui K, Sasahara Y, Tazawa R, et al. Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults. Respir Res 2001; 2:188. Quartier P, Debré M, De Blic J, et al. Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. J Pediatr 1999; 134:589. Howard V, Greene JM, Pahwa S, et al. The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol 2006; 118:201. Tarzi MD, Grigoriadou S, Carr SB, et al. Clinical immunology review series: An approach to the management of pulmonary disease in primary antibody deficiency. Clin Exp Immunol 2009; 155:147. Cuccherini B, Chua K, Gill V, et al. Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. Clin Immunol 2000; 97:121. Han S, Schindel C, Genitsariotis R, et al. Identification of a unique Helicobacter species by 16S rRNA gene analysis in an abdominal abscess from a patient with X-linked hypogammaglobulinemia. J Clin Microbiol 2000; 38:2740. Weir S, Cuccherini B, Whitney AM, et al. Recurrent bacteremia caused by a "Flexispira"-like organism in a patient with X-linked (Bruton's) agammaglobulinemia. J Clin Microbiol 1999; 37:2439.
Han S, Schindel C, Genitsariotis R, et al. Identification of a unique Helicobacter species by 16S rRNA gene analysis in an abdominal abscess from a patient with X-linked hypogammaglobulinemia. J Clin Microbiol 2000; 38:2740. Weir S, Cuccherini B, Whitney AM, et al. Recurrent bacteremia caused by a "Flexispira"-like organism in a patient with X-linked (Bruton's) agammaglobulinemia. J Clin Microbiol 1999; 37:2439. Simons E, Spacek LA, Lederman HM, Winkelstein JA. Helicobacter cinaedi bacteremia presenting as macules in an afebrile patient with X-linked agammaglobulinemia. Infection 2004; 32:367. Wilfert CM, Buckley RH, Mohanakumar T, et al. Persistent and fatal central-nervous-system ECHOvirus infections in patients with agammaglobulinemia. N Engl J Med 1977; 296:1485. Halliday E, Winkelstein J, Webster AD. Enteroviral infections in primary immunodeficiency (PID): a survey of morbidity and mortality. J Infect 2003; 46:1. Misbah SA, Spickett GP, Ryba PC, et al. Chronic enteroviral meningoencephalitis in agammaglobulinemia: case report and literature review. J Clin Immunol 1992; 12:266. Bardelas JA, Winkelstein JA, Seto DS, et al. Fatal ECHO 24 infection in a patient with hypogammaglobulinemia: relationship to dermatomyositis-like syndrome. J Pediatr 1977; 90:396. Saulsbury FT, Bernstein MT, Winkelstein JA. Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. J Pediatr 1979; 95:559. Dittrich AM, Schulze I, Magdorf K, et al. X-linked agammaglobulinaemia and Pneumocystis carinii pneumonia--an unusual coincidence? Eur J Pediatr 2003; 162:432. Alibrahim A, Lepore M, Lierl M, et al. Pneumocystis carinii pneumonia in an infant with X-linked agammaglobulinemia. J Allergy Clin Immunol 1998; 101:552. Agarwal S, Mayer L. Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes. J Allergy Clin Immunol 2009; 124:658. Wright PF, Hatch MH, Kasselberg AG, et al. Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia. J Pediatr 1977; 91:408. Gompels MM, Hodges E, Lock RJ, et al. Lymphoproliferative disease in antibody deficiency: a multi-centre study. Clin Exp Immunol 2003; 134:314. Lavilla P, Gil A, Rodríguez MC, et al. X-linked agammaglobulinemia and gastric adenocarcinoma. Cancer 1993; 72:1528.
Wright PF, Hatch MH, Kasselberg AG, et al. Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia. J Pediatr 1977; 91:408. Gompels MM, Hodges E, Lock RJ, et al. Lymphoproliferative disease in antibody deficiency: a multi-centre study. Clin Exp Immunol 2003; 134:314. Lavilla P, Gil A, Rodríguez MC, et al. X-linked agammaglobulinemia and gastric adenocarcinoma. Cancer 1993; 72:1528. Bachmeyer C, Monge M, Cazier A, et al. Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia. Eur J Gastroenterol Hepatol 2000; 12:1033. van der Meer JW, Weening RS, Schellekens PT, et al. Colorectal cancer in patients with X-linked agammaglobulinaemia. Lancet 1993; 341:1439. Brosens LA, Tytgat KM, Morsink FH, et al. Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol 2008; 6:115. Echave-Sustaeta JM, Villena V, Verdugo M, et al. X-linked agammaglobulinaemia and squamous lung cancer. Eur Respir J 2001; 17:570. Berlucchi M, Soresina A, Redaelli De Zinis LO, et al. Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr 2008; 153:293. Hunter HL, McKenna KE, Edgar JD. Eczema and X-linked agammaglobulinaemia. Clin Exp Dermatol 2008; 33:148. Saffran DC, Parolini O, Fitch-Hilgenberg ME, et al. Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med 1994; 330:1488. Kornfeld SJ, Haire RN, Strong SJ, et al. A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Mol Med 1996; 2:619. Kornfeld SJ, Kratz J, Haire RN, et al. X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. J Allergy Clin Immunol 1995; 95:915. Wood PM, Mayne A, Joyce H, et al. A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. J Pediatr 2001; 139:148. Cham B, Bonilla MA, Winkelstein J. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol 2002; 39:107. Farrar JE, Rohrer J, Conley ME. Neutropenia in X-linked agammaglobulinemia. Clin Immunol Immunopathol 1996; 81:271. Kanegane H, Taneichi H, Nomura K, et al. Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. J Clin Immunol 2005; 25:491.
Cham B, Bonilla MA, Winkelstein J. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol 2002; 39:107. Farrar JE, Rohrer J, Conley ME. Neutropenia in X-linked agammaglobulinemia. Clin Immunol Immunopathol 1996; 81:271. Kanegane H, Taneichi H, Nomura K, et al. Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. J Clin Immunol 2005; 25:491. Plo Rodríguez F, García Rodríguez MC, Ferreira Cerdán A, Fontán Casariego G. [Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients]. An Esp Pediatr 1999; 51:235. 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. Nakagawa N, Imai K, Kanegane H, et al. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 2011; 128:223. Borte S, von Döbeln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012; 119:2552. Zhu Q, Zhang M, Rawlings DJ, et al. Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 1994; 180:461. Guioli S, Arveiler B, Bardoni B, et al. Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet 1989; 84:19. Kwan SP, Walker AP, Hagemann T, et al. A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families. Prenat Diagn 1994; 14:493. Parolini O, Hejtmancik JF, Allen RC, et al. Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics 1993; 15:342. Winkelstein JA, Fearon E. Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis. J Allergy Clin Immunol 1990; 85:1090. Fearon ER, Winkelstein JA, Civin CI, et al. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 1987; 316:427. Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 1988; 112:688.
Winkelstein JA, Fearon E. Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis. J Allergy Clin Immunol 1990; 85:1090. Fearon ER, Winkelstein JA, Civin CI, et al. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 1987; 316:427. Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 1988; 112:688. Kanegane H, Futatani T, Wang Y, et al. Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol 2001; 108:1012. Liese JG, Wintergerst U, Tympner KD, Belohradsky BH. High- vs low-dose immunoglobulin therapy in the long-term treatment of X-linked agammaglobulinemia. Am J Dis Child 1992; 146:335. Sweinberg SK, Wodell RA, Grodofsky MP, et al. Retrospective analysis of the incidence of pulmonary disease in hypogammaglobulinemia. J Allergy Clin Immunol 1991; 88:96. Winkelstein JA, Conley ME, James C, et al. Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes. Medicine (Baltimore) 2008; 87:253. Minegishi Y, Coustan-Smith E, Wang YH, et al. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 1998; 187:71. Minegishi Y, Coustan-Smith E, Rapalus L, et al. Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest 1999; 104:1115. Minegishi Y, Rohrer J, Coustan-Smith E, et al. An essential role for BLNK in human B cell development. Science 1999; 286:1954. Kubota K, Kim JY, Sawada A, et al. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. FEBS Lett 2004; 564:147. Conley ME, Rohrer J, Rapalus L, et al. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol Rev 2000; 178:75. Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335:1486. Ferrari S, Lougaris V, Caraffi S, et al. Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med 2007; 204:2047.
Conley ME, Rohrer J, Rapalus L, et al. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol Rev 2000; 178:75. Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335:1486. Ferrari S, Lougaris V, Caraffi S, et al. Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med 2007; 204:2047. Conley ME, Farmer DM, Dobbs AK, et al. A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease. Clin Exp Immunol 2008; 152:39. Cliffe ST, Bloch DB, Suryani S, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol 2012; 130:735. Conley ME, Dobbs AK, Quintana AM, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. J Exp Med 2012; 209:463. Topic 3931 Version 10.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [0604-122.72.80.101-9C98E7F444-S244013.14]