Bruton Agammaglobulinemia Differential Diagnoses

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Mar 9, 2012
 
 

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Franklin Desposito, MD  Professor of Pediatrics and Clinical Director, Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School; Consulting Staff, Department of Pediatrics, UMDNJ-University Hospital

Franklin Desposito, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, American Society of Human Genetics, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Julie R Kenner, MD, PhD  Consultant, Clinical Research, Medical Affairs, VaxGen, Inc; Private Practice, Kenner Dermatology Center

Julie R Kenner, MD, PhD is a member of the following medical societies: American Academy of Dermatology and American Society of Tropical Medicine and Hygiene

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD  Herman Beerman Associate Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology

Disclosure: Lippincott Williams Wilkins Royalty Textbook editor; DLA Piper Consulting fee Consulting

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Isabel N. Granja Jander, MD, to the development and writing of this article.

References

  1. Conley ME, Broides A, Hernandez-Trujillo V, et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev. Feb 2005;203:216-34. [Medline].

  2. Vihinen M, Kwan SP, Lester T, et al. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. Hum Mutat. 1999;13(4):280-5. [Medline].

  3. Vihinen M, Mattsson PT, Smith CI. Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). Front Biosci. Dec 1 2000;5:D917-28. [Medline].

  4. Wang XC, Wang Y, Kanegane H, Toshio M, Yu YH. [Gene diagnosis of X-linked agammaglobulinemia]. Zhonghua Er Ke Za Zhi. Jun 2005;43(6):449-52. [Medline].

  5. Wang Y, Kanegane H, Sanal O, et al. Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia. Hum Mutat. Oct 2001;18(4):356. [Medline].

  6. Khan WN. Regulation of B lymphocyte development and activation by Bruton's tyrosine kinase. Immunol Res. 2001;23(2-3):147-56. [Medline].

  7. Ng YS, Wardemann H, Chelnis J, Cunningham-Rundles C, Meffre E. Bruton's tyrosine kinase is essential for human B cell tolerance. J Exp Med. Oct 4 2004;200(7):927-34. [Medline].

  8. Satterthwaite AB, Witte ON. The role of Bruton's tyrosine kinase in B-cell development and function: a genetic perspective. Immunol Rev. Jun 2000;175:120-7. [Medline].

  9. Fu JL, Shyur SD, Lin HY, Lai YC. X-linked agammaglobulinemia presenting as juvenile chronic arthritis: report of one case. Acta Paediatr Taiwan. Jul-Aug 1999;40(4):280-3. [Medline].

  10. Quartier P, Foray S, Casanova JL, Hau-Rainsard I, Blanche S, Fischer A. Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction. Pediatr Infect Dis J. Nov 2000;19(11):1106-8. [Medline].

  11. Murray PR, Jain A, Uzel G, Ranken R, Ivy C, Blyn LB, et al. Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysis. Arch Dermatol. May 2010;146(5):523-6. [Medline].

  12. Narula G, Currimbhoy Z. Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation. Pediatr Blood Cancer. Dec 2008;51(6):826-8. [Medline].

  13. Brosens LA, Tytgat KM, Morsink FH, et al. Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol. Jan 2008;6(1):115-9. [Medline].

  14. Behniafard N, Aghamohammadi A, Abolhassani H, Pourjabbar S, Sabouni F, Rezaei N. Autoimmunity in X-linked agammaglobulinemia: Kawasaki disease and review of the literature. Expert Rev Clin Immunol. Feb 2012;8(2):155-9. [Medline].

  15. D'Eufemia P, Nigro G, Celli M, Finocchiaro R, Iannetti P, Giardini O. Low-dosage immunoglobulins for an infant with hypogammaglobulinemia, maple syrup urine disease, and parvovirus B19-associated aplastic crisis. J Pediatr Hematol Oncol. Sep-Oct 2000;22(5):485-7. [Medline].

  16. Eijkhout HW, van Der Meer JW, Kallenberg CG, et al. The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. Ann Intern Med. Aug 7 2001;135(3):165-74. [Medline].

  17. Hendriks RW, Bredius RG, Pike-Overzet K, Staal FJ. Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man. Expert Opin Ther Targets. Aug 2011;15(8):1003-21. [Medline].

  18. Lee KH, Shyur SD, Chu SH, Huang LH, Kao YH, Lei WT, et al. Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease. Asian Pac J Allergy Immunol. Sep 2011;29(3):260-5. [Medline].

  19. Park JY, Kim YS, Shin DH, Choi JS, Kim KH, Bae YK. Primary cutaneous peripheral T-cell lymphoma in a patient with X-linked agammaglobulinaemia. Br J Dermatol. Mar 2011;164(3):677-9. [Medline].

  20. Chun JK, Lee TJ, Song JW, Linton JA, Kim DS. Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at Severance Hospital. Yonsei Med J. Feb 29 2008;49(1):28-36. [Medline].

  21. 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. Jul 2001;114(1):141-9. [Medline].

  22. Speletas M, Kanariou M, Kanakoudi-Tsakalidou F, et al. Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. Scand J Immunol. Sep 2001;54(3):321-7. [Medline].

  23. Amedei A, Romagnani C, Benagiano M, et al. Preferential Th1 profile of T helper cell responses in X-linked (Bruton's) agammaglobulinemia. Eur J Immunol. Jun 2001;31(6):1927-34. [Medline].

  24. Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol. Oct 2000;19(2):183-204. [Medline].

  25. Galama JM, Gielen M, Weemaes CM. Enterovirus antibody titers after IVIG replacement in agammaglobulinemic children. Clin Microbiol Infect. Nov 2000;6(11):630-2. [Medline].

  26. Hokibara S, Agematsu K, Komiyama A. B cell development and primary immunodeficiencies with hypogammaglobulinemia. Arch Immunol Ther Exp (Warsz). 2000;48(4):267-71. [Medline].

  27. Holinski-Feder E, Weiss M, Brandau O, et al. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics. Feb 1998;101(2):276-84. [Medline].

  28. Islam TC, Smith CI. The cellular phenotype conditions Btk for cell survival or apoptosis signaling. Immunol Rev. Dec 2000;178:49-63. [Medline].

  29. Jo EK, Kanegane H, Nonoyama S, et al. Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families. J Immunol. Oct 1 2001;167(7):4038-45. [Medline].

  30. Kang SW, Wahl MI, Chu J, et al. PKCbeta modulates antigen receptor signaling via regulation of Btk membrane localization. EMBO J. Oct 15 2001;20(20):5692-702. [Medline].

  31. LeBien TW. Fates of human B-cell precursors. Blood. Jul 1 2000;96(1):9-23. [Medline].

  32. Lowry WE, Huang XY. G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase. J Biol Chem. Jan 11 2002;277(2):1488-92. [Medline].

  33. Morra M, Howie D, Grande MS, et al. X-linked lymphoproliferative disease: a progressive immunodeficiency. Annu Rev Immunol. 2001;19:657-82. [Medline].

  34. Nonoyama S. Recent advances in the diagnosis of X-linked agammaglobulinemia. Intern Med. Sep 1999;38(9):687-8. [Medline].

  35. Ohta Y, Haire RN, Litman RT, et al. Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Proc Natl Acad Sci U S A. Sep 13 1994;91(19):9062-6. [Medline].

  36. Pienaar S, Eley B, Beatty DW, Henderson HE. X-linked agammaglobulinaemia and the underlying genetics in two kindreds. J Paediatr Child Health. Oct 2000;36(5):453-6. [Medline].

  37. Sidhu US, Sood A, Ram S. A case of recurrent pneumonias. Indian J Chest Dis Allied Sci. Apr-Jun 2000;42(2):119-22. [Medline].

  38. Smith CI, Backesjo CM, Berglof A, et al. X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase. Springer Semin Immunopathol. 1998;19(4):369-81. [Medline].

  39. Smith CI, Islam TC, Mattsson PT, Mohamed AJ, Nore BF, Vihinen M. The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species. Bioessays. May 2001;23(5):436-46. [Medline].

  40. Stewart DM, Tian L, Nelson DL. A case of X-linked agammaglobulinemia diagnosed in adulthood. Clin Immunol. Apr 2001;99(1):94-9. [Medline].

  41. Usui K, Sasahara Y, Tazawa R, et al. Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults. Respir Res. 2001;2(3):188-92. [Medline].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.