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| CHRONIC GRANULOMATOUS-DISEASE WITH PARTIAL DEFICIENCY OF CYTOCHROME-B558 AND INCOMPLETE RESPIRATORY BURST - VARIANTS OF THE X-LINKED, CYTOCHROME-B558-NEGATIVE FORM OF THE DISEASE |
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| Author(s): ROOS D, DEBOER M, BORREGARD N, BJERRUM OW, VALERIUS NH, SEGER RA, MUHLEBACH T, BELOHRADSKY BH, WEENING RS |
| Source: JOURNAL OF LEUKOCYTE BIOLOGY Volume: 51 Issue: 2 Pages: 164-171 Published: FEB 1992 |
| Times Cited: 40 References: 53 |
| Abstract: Five male patients from four different families presented with a clinical record of chronic granulomatous disease (CGD): recurrent infections of the skin and/or respiratory tract with catalase-positive microorganisms, sometimes in combination with granulomata and/or abscesses in various organs. These patients differed from "classical" forms of the disease in that their neutrophils, although deficient in killing in vitro of Staphylococcus aureus, contained a decreased but measurable amount of cytochrome b558 (10-60% of normal on a heme basis), causing weak staining in the nitroblue tetrazolium dye test and a depressed respiratory burst after contact of the cells with fluid or particulate activators of the NADPH:O2 oxidoreductase. In the cell-free activation system, the defect in the patients' cells was localized in the membrane fraction. In each of the four families, the cellular abnormalities showed an X-linked inheritance. Fusion experiments performed with the monocytes from these patients and those from patients with classical X-linked, cytochrome b558-negative (Xb0) or autosomal, cytochrome b558-positive (Ab+) CGD showed complementation of NADPH:O2 oxidoreductase activity in the latter but not in the former combination. Thus, the unusual CGD patients represent variant forms of Xb0 CGD, with mutations in the gene coding for the beta subunit of cytochrome b558 that do not cause complete loss of this protein. |
| Document Type: Article |
| Language: English |
Addresses:
1. NETHERLANDS RED CROSS, BLOOD TRANSFUS SERV, CENT LAB, AMSTERDAM, NETHERLANDS
2. UNIV AMSTERDAM, EXPTL & CLIN IMMUNOL LAB, AMSTERDAM, NETHERLANDS
3. UNIV COPENHAGEN HOSP, DEPT INTERNAL MED & HEMATOL A, DK-2100 COPENHAGEN, DENMARK
4. COPENHAGEN COMMUNITY HVIDOVRE HOSP, COPENHAGEN, DENMARK
5. UNIV MUNICH, CHILDRENS CLIN, DEPT ANTIMICROBIAL THERAPY & INFECT IMMUNOL, W-8000 MUNICH 2, GERMANY
6. UNIV AMSTERDAM, ACAD MED CTR, CHILDRENS HOSP HET EMMA KINDERZIEKENHUIS, 1105 AZ AMSTERDAM, NETHERLANDS
7. UNIV ZURICH, CHILDRENS HOSP, DEPT PEDIAT, CH-8006 ZURICH, SWITZERLAND |
| Publisher: FEDERATION AMER SOC EXP BIOL, 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 |
| Subject Category: Cell Biology; Hematology; Immunology |
| IDS Number: JQ362 |
| ISSN: 0741-5400 |
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