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Titolo:
Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults
Autore:
Usui, K; Sasahara, Y; Tazawa, R; Hagiwara, K; Tsukada, S; Miyawaki, T; Tsuchiya, S; Nukiwa, T;
Indirizzi:
Tohoku Univ, Inst Dev Aging & Canc, Dept Resp Oncol & Mol Med, Aoba Ku, Sendai, Miyagi 9808575, Japan Tohoku Univ Sendai Miyagi Japan 9808575 Ku, Sendai, Miyagi 9808575, Japan Tohoku Univ, Inst Dev Aging & Canc, Dept Pediat Oncol, Sendai, Miyagi 9808575, Japan Tohoku Univ Sendai Miyagi Japan 9808575 ol, Sendai, Miyagi 9808575, Japan Osaka Univ, Sch Med, Dept Med 3, Osaka, Japan Osaka Univ Osaka JapanOsaka Univ, Sch Med, Dept Med 3, Osaka, Japan Toyama Med & Pharmaceut Univ, Fac Med, Dept Pediat, Toyama, Japan Toyama Med & Pharmaceut Univ Toyama Japan d, Dept Pediat, Toyama, Japan
Titolo Testata:
RESPIRATORY RESEARCH
fascicolo: 3, volume: 2, anno: 2001,
pagine: 188 - 192
SICI:
1465-993X(2001)2:3<188:RPWMHD>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
BRUTONS TYROSINE KINASE; DEFICIENT EXPRESSION; MUTATIONS; FAMILY; GENE;
Keywords:
adult onset; Bruton's tyrosine kinase; mild hypogammaglobulinemia; recurrent pneumonia; X-linked agammaglobulinemia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Tazawa, R Tohoku Univ, Inst Dev Aging & Canc, Dept Resp Oncol & Mol Med, Aoba Ku, 4-1 Seiryomachi, Sendai, Miyagi 9808575, Japan Tohoku Univ 4-1 Seiryomachi Sendai Miyagi Japan 9808575 5, Japan
Citazione:
K. Usui et al., "Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults", RESPIR RES, 2(3), 2001, pp. 188-192

Abstract

Background: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by disruption of the Bruton's tyrosine kinase (BTK) gene. Typical XLA patients suffer recurrent and severe bacterial infections in childhood. Methods: Flow cytometric analysis of the peripheral monocytes using the anti-BTK antibody was used to characterize a 27 year old male patient with mild hypogammaglobulinemia (IgG, 635 mg/dl; IgM, 11 mg/dl; IgA, < 5 mg/dl). He had suffered from frequent pneumonia since age 25 but had no history of frequent infections in his childhood or in adolescence. Sequencing of the BTK cDNA obtained from an Epstein-Barr virus-transformed B lymphoblastoid cell line derived from the bone marrow of the patient was performed to confirma genetic defect. Results: Flow cytometric analysis of cytoplasmic BTK protein in peripheralmonocytes indicated that the patient presents a rare case of adult-onset XLA and that his mother is an XLA carrier. Sequencing of the BTK gene revealed a deletion of AG in the codon for Glu605 (AGT), resulting in an aberrantstop codon that truncates the BTK protein in its kinase domain. Conclusions: This case suggests that some XLA cases may remain undiagnosedbecause they only show mild hypogammaglobulinemia and they lack repeated infections in childhood. Flow cytometric analysis is a powerful method to screen these patients.

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Documento generato il 31/03/20 alle ore 10:28:33