title: Defining p47-phox deficient Chronic Granulomatous Disease in a Malay family.
abstract: BACKGROUND
  The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (deltaGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (psi s) and NCF-1. The GTGT: deltaGT ratio mirrors the NCF-I: NCF-1 psi ratio and is 2:4 in normal individuals.
  
  
  OBJECTIVE
  To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus.
  
  
  METHODS
  Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, deltaGT and the 20bp gene scans.
  
  
  RESULTS
  The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The deltaGT scan showed that the patient's GTGT: deltaGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1 psi s differences showed that the father had a compound deltaGT allele ie. deltaGT-20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1.
  
  
  CONCLUSIONS
  The patient was a classic, homozygous deltaGT p47-phox deficient CGD with one allele harbouring a compound deltaGT-20bp gene. The deltaGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.
authors: Allergy and Immunology Research Centre, Institute for Medical Research, 50588 Kuala Lumpur. gillhk@imr.gov.my
authors: Harvindar Kaur
authors: HK
authors: Gill
authors: Hemahwathy Chanthira
authors: HC
authors: Kumar
authors: Jasbir Singh
authors: JS
authors: Dhaliwal
authors: Farizawati
authors: F
authors: Zabidi
authors: Iean Hamzah
authors: IH
authors: Sendut
authors: Rahim M
authors: RM
authors: Noah
authors: Lokman Mohammad
authors: LM
authors: Noh
authors: Amir Hamzah Abdul
authors: AH
authors: Latiff
authors: Shahnaz
authors: S
authors: Murad
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D008296:Malaysia; D008297:Male; D019255:NADPH Oxidases / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011544:Pseudogenes; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1