De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.
BACKGROUND: X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of all immunoglobulins and the absence of mature B cells, is caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). Most patients have recurrent sinopulmonary infection. Infections usually occur in...
| Publicado en: | Annals of Allergy, Asthma & Immunology Vol. 96; no. 5; pp. 744 - 749 |
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| Autores principales: | , , , , , , , |
| Formato: | case study Journal Article |
| Publicado: |
Elsevier B.V.
2006 May
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=106005787&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 106005787 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10811206 1FN jtl: Annals of Allergy, Asthma & Immunology issn: 10811206 maglogo: N pubinfo: dt: 2006 May vid: 96 iid: 5 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 106005787 106005787 2009191338 NLM16729790 106005787 ppf: 744 ppct: 5 formats: tig: atl: De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma. aug: au: Lin MT Chien YH Shyur SD Huang LH Chiang YC Wen DC Liang PH Yang HC sug: subj: Agammaglobulinemia Immunology Genetic Diseases, X-Linked Immunology Mutation Pyoderma Etiology Transferases Adolescence Adult Agammaglobulinemia Complications Agammaglobulinemia B Lymphocytes Immunology Child Diagnosis, Differential Flow Cytometry Genetic Diseases, X-Linked Complications Genetic Diseases, X-Linked Immunologic Deficiency Syndromes Pathology Male Nucleotides Pedigree Polymerase Chain Reaction Recurrence Sequence Analysis Adolescent: 13-18 years Adult: 19-44 years Child: 6-12 years Male ab: BACKGROUND: X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of all immunoglobulins and the absence of mature B cells, is caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). Most patients have recurrent sinopulmonary infection. Infections usually occur in multiple locations across time, but single infection may be limited to one anatomic location. OBJECTIVES: To report a case of atypical XLA with recurrent pyoderma and to observe the immunologic changes in the patient in 10 years. METHODS: Immunologic investigations, skin wound culture, and molecular study with DNA sequencing were performed. RESULTS: The patient was originally diagnosed as having common variable immunodeficiency disease because of the presence of circulating B cells (CD19+ B cells: 7%) at 11 years old. On further evaluation at the age of 20 years, flow cytometric analysis of lymphocytes showed only 0.4% B cells. The molecular study with DNA sequencing of the patient showed a point mutation in complementary DNA 1630 A>G(p.R544G) in the BTK gene, indicating that the patient has XLA. The mutation analysis of the BTK gene revealed a normal DNA sequence in the other family members. CONCLUSIONS: This case is an important example of a possible presentation of XLA with a predominant skin manifestation, and it demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of XLA in a child with recurrent pyoderma. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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