X-linked agammaglobulinemia diagnosed late in life: Case report and review of the literature

Clinical and Molecular Allergy

Volumn 6, Issue , 2008, Pages

  Sigmon, Justin R ^a   Kasasbeh, Ehab ^a   Krishnaswamy, Guha ^a  

^a East Tennessee State University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRUTON TYROSINE KINASE; CD19 ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ADULT; B LYMPHOCYTE; BRONCHITIS; CASE REPORT; COMMON VARIABLE IMMUNODEFICIENCY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; LUNG INFECTION; MALE; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; RECURRENT INFECTION; REVIEW; X LINKED AGAMMAGLOBULINEMIA;

EID: 45549107991     PISSN: None     EISSN: 14767961     Source Type: Journal    
DOI: 10.1186/1476-7961-6-5     Document Type: Review

References (15)

1. Stiehm E Ochs HD Winkelstein JA Primary Immunodeficiencies Immunologic Disorders in Infants and Children Philadelphia: Elsevier Saunders Fletcher J 2004, 357-62.
2. Hashimoto SMT Futatani T Kanegane H Usui K Nukiwa T Namiuchi S Matsushita M Yamadori T Suemura M Kishimoto T Tsukada S Atypical X-linked Agammaglobulinemia Diagnosed in Three Adults Internal Medicine 1999, 38:722-5. 10.2169/internalmedicine.38.722 10480303
3. Stewart D Tian L Nelson DL A Case of X-linked Agammaglobulinemia Diagnosed in Adulthood Clinical Immunology 2001, 99:94-9. 10.1006/ clim.2001.5024 11286545
4. Noordzij JG de Bruin-Versteeg S Hartwig NG Weemaes CM Gerritsen EJ Bernatowska E van Lierde S de Groot R van Dongen JJ XLA Patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts Journal of Clinical Immunology 2002, 22:306-18. 10.1023/ A:1019982206951 12405164
5. Morwood K Bourne H Philpot R Gold M Gillis D Benson EM Phenotypic variability: Clinical presentation between the 6th year and 60th year in a family with x-linked agammaglobulinemia J Allergy Clin Immunol 2004, 113(4):783-5. 10.1016/j.jaci.2003.10.061 15112668
6. D Saffran OP M Fitch-Hilgenberg A Point Mutation in the SH2 Domain of Bruton's Tyrosine Kinase in Atypical X-linked Agammaglobulinemia New England Journal of Medicine 1994, 330;1488-91. 10.1056/ NEJM199405263302104 8164701
7. Lin M Chien Y Shyur S Huang L Chiang Y Wen D Liang P Yang H De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma Annals of Allergy, Asthma, and Immunology 2006, 96:744-8.
8. Usui K Sasahara Y Tazawa R Hagiwara K Tsukada S Miyawaki T Tsuchiya S Nukiwa T Recurrent pneumonia with mild hypogammaglobulinemia diagnosed in X-linked agammaglobulinemia in adults Respir Res 2001, 2;188-92. 2092384 11686883 10.1186/rr56
9. Mitsui T Tsukamoto N Kanegane H Agematsu K Sekigami T Irisawa H Saitoh T Uchiumi H Handa H Matsushima T Karasawa M Murakami H Miyawaki T Nojima Y X-linked agammaglobulinemia diagnosed in adulthood: A case report Int J Hematol 2006, 84:154-7. 10.1532/IJH97.06095 16926138
10. Kanegane H Miyawaki T Wang Y Nomura K Shinozaki K Matsukura H Kubota T Tsukada S Miyawaki T 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(6):1012-20. 10.1067/mai.2001.120133 11742281
11. Bulley S Zhang J Kwong S Roifman C Newly diagnosed X-linked Agammaglobulinemia, Bruton's Tyrosine Kinase (BTK) Mutation, in a 39 Year-Old Male Journal of Allergy and Clinical Immunology 2002, 109:S188. 10.1016/S0091-6749(02)81694-3
12. Kornfeld S haire RN Strong SJ Tang H Sung SJ Fu SM Litman GW A Novel Mutation (Cys145Stop) in Bruton's Tyrosine Kinase Is Associated with Newly Diagnosed X-linked Agammaglobulinemia in a 51-year-old Male Molecular Medicine 1996, 2:619-23. 2230197 8898377
13. Kornfeld S Haire RN Strong SJ Brigino EN Tang H Sung SJ Man Fu S Litman GW Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family Journal of Allergy and Clinical Immunology 1997, 100:702-6. 10.1016/S0091-6749(97)70176-3
14. Okoh M Vihinen M Interaction between Btk TH and SH3 domain Biopolymers 2002, 63:325-34. 10.1002/bip.10049 11877742
15. Valiaho J Edvard Smith CI Vihinen M BTKbase: The Mutation Database for X-Linked Agammaglobulinemia Human Mutation 2006, 27:1209-17. 10.1002/ humu.20410 16969761