[ English | Bahasa Malaysia ] Hari ini ialah 12 Dec 2019, 07:06 PM (Terakhir dikemaskini pada: 12th Dec 2019)

Text Red Text Black Text Blue Text Green Text Smaller Text Reset Text Larger

Publication Details
Year :

2013

Journal :

Harvindar KG, Hemahwathy CK, Chan KKC, Choo CM, Revathy N, Narazah MY, Saharuddin M, Adiratna MR, Jasbir SD and Shahnaz M (2013). X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother. Asian Pacific Journal of Allergy and Immunology 31: 167-172

Abstract :

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter's Syndrome (KS) and CGD would be extremely rare.

OBJECTIVE: We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinefelter.

METHODS: Flow cytometry was used to study respiratory burst and gp91-phox expression, while genetic investigation was done by RT-PCR, PCR and X-chromosome short tandem repeat (X-STR) analysis.

RESULTS: The Dihydrorhodamine (DHR) assay showed the patient's neutrophils failed to produce a respiratory burst, while both the mother and an older brother showed a bimodal response. gp91-phox expression was absent in the patient's neutrophils, and bimodal in the mother's and brother's neutrophils. The patient's cDNA showed a C>T change at nucleotide 676 of the CYBB gene. The same change was seen in the patient's gDNA, while the brother and mother were heterozygous, with C and T, in this position. The c.676C>T is a nonsense mutation that leads to premature termination of the gp91-phox protein. The brother karyotyped as 47, XXY and X chromosome analysis showed that he had inherited both his mother's X chromosomes.

CONCLUSIONS: This study showed that the patient had gp91-phox deficient CGD while his older brother was a CGD carrier and a Klinefelter, who had inherited both his mother's X chromosomes. This is the first report of such a concurrence in an individual, and argues for family members to be included in PID studies.

myGOV MAMPU JPA IKU MSC NMMR CRC MyHEALTH MOH Globinmed SPA krste.my

Notis

Logo-SIRIM-n-UKAS-IMR

IMR ialah sebuah organisasi bertauliah oleh SIRIM (nombor sijil 2972).

Laman ini sesuai dilihat menggunakan Firefox (24.0) dengan resolusi 1280 x 768 pixels atau lebih.

Lokasi Kami

world

Kami terletak di Jalan Pahang, 50588 Kuala Lumpur, Malaysia. Kami beroperasi dari jam 8.00pg - 5.00ptg Isnin - Jumaat. Klik pada imej peta untuk melancarkan servis Google Maps.

Hubungi Kami