Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report.

X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.

[1]  Rongchang Chen,et al.  Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report. , 2016, Journal of thoracic disease.

[2]  M. Girardis,et al.  Early therapy with IgM-enriched polyclonal immunoglobulin in patients with septic shock , 2014, Intensive Care Medicine.

[3]  L. Xiaoli.  Three cases report and literature review of X-Linked agammaglobulinemia , 2014 .

[4]  S. Mohamad,et al.  A novel Bruton's tyrosine kinase gene (BTK) invariant splice site mutation in a Malaysian family with X-linked agammaglobulinemia. , 2013, Asian Pacific journal of allergy and immunology.

[5]  K. Reifenberg,et al.  Antigen presentation under the influence of ‘immune evasion’ proteins and its modulation by interferon-gamma: implications for immunotherapy of cytomegalovirus infection with antiviral CD8 T cells , 2012, Medical Microbiology and Immmunology.

[6]  T. Gardner,et al.  Diverse immune evasion strategies by human cytomegalovirus , 2012, Immunologic Research.

[7]  P. Tomasec,et al.  Human Cytomegalovirus UL40 Signal Peptide Regulates Cell Surface Expression of the NK Cell Ligands HLA-E and gpUL18 , 2012, The Journal of Immunology.

[8]  Y. Lau,et al.  Dendritic and T Cell Response to Influenza is Normal in the Patients with X-Linked Agammaglobulinemia , 2012, Journal of Clinical Immunology.

[9]  S. Riddell,et al.  Human cytomegalovirus microRNA miR-US4-1 inhibits CD8+ T cell responses by targeting the aminopeptidase ERAP1 , 2011, Nature Immunology.

[10]  L. Notarangelo,et al.  X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. , 2009, Journal of autoimmunity.

[11]  M. van der Burg,et al.  Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. , 2009, Molecular immunology.

[12]  Tong-Xin Chen,et al.  Clinical Characteristics and Genotype-phenotype Correlation in 62 Patients with X-linked Agammaglobulinemia , 2009, Journal of Clinical Immunology.

[13]  Bairong Shen,et al.  Genome wide analysis of pathogenic SH2 domain mutations , 2008, Proteins.

[14]  Silvia Bruno,et al.  Human Cytomegalovirus Regulates Surface Expression of the Viral Protein UL18 by Means of Two Motifs Present in the Cytoplasmic Tail1 , 2008, The Journal of Immunology.

[15]  C. Cunningham-Rundles,et al.  X-Linked Agammaglobulinemia: Report on a United States Registry of 201 Patients , 2006, Medicine.

[16]  M. Conley,et al.  The health status and quality of life of adults with X-linked agammaglobulinemia. , 2006, Clinical immunology.

[17]  Wenjian Yang,et al.  Genotype/phenotype correlations in X-linked agammaglobulinemia. , 2006, Clinical immunology.

[18]  M. Conley,et al.  Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. , 2002, The Journal of pediatrics.

[19]  L. Notarangelo,et al.  Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. , 2002, Clinical immunology.

[20]  M. Conley,et al.  Defects in early B‐cell development: comparing the consequences of abnormalities in pre‐BCR signaling in the human and the mouse , 2000, Immunological reviews.

[21]  L. Notarangelo,et al.  Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). , 1999, Clinical immunology.

[22]  H. Ochs,et al.  X-linked agammaglobulinemia. A clinical and molecular analysis. , 1996, Medicine.

[23]  D. Vetrie,et al.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases , 1993, Nature.

[24]  E. Timmers,et al.  X-linked agammaglobulinemia. , 1991, Clinical immunology and immunopathology.