0
ARTICLE |

Chronic Granulomatous Disease in Three Female Siblings FREE

Parvin H. Azimi, MD; Joann G. Bodenbender, MT; Raymond L. Hintz, MD; Stella B. Kontras, MD
[+] Author Affiliations

Reprint requests to 561 S 17th St, Columbus, Ohio 43205 (Dr. Kontras).


JAMA. 1968;206(13):2865-2870. doi:10.1001/jama.1968.03150130023004
Text Size: A A A
Published online

Three female siblings aged 6, 4, and 2 years with the clinical syndrome of chronic granulomatous disease had frequent hospital admissions for serious bacterial infections, including pneumonia, liver abscesses, pyoderma, keratoconjunctivitis, draining adenitis, septicemia, and anemia. All three children were immunologically competent. Liver biopsy specimens in two of the three showed "chronic granulomatous reaction." Polymorphonuclear leukocytes from the patients showed impaired bactericidal ability when incubated with Staphylococcus aureus. Their leukocytes showed decreased ability to reduce nitroblue tetrazolium (NBT) dye compared with normal cells. The X-linked mode of transmission found in males with fatal chronic granulomatous disease is unlikely in these cases even if the Lyon hypothesis is considered. An autosomal locus acting either as homozygous recessive or dominant with variable expression would explain the occurrence of this disorder in females.

REFERENCES

Barendes, H.; Bridges, R.A.; and Good, R.A.:  A Fatal Granulomatosis of Childhood , Minn Med 40:309-312 ( (May) ) 1957;.
Bridges, R.A.; Barendes, H.; and Good. R.A.:  A Fatal Granulomatous Disease of Childhood , Amer J Dis Child 97:387-408 ( (April) ) 1959;.
Holmes, B., et al:  Fatal Granulomatous Disease of Childhood: An Inborn Abnormality of Phagocytic Function . Lancet 1:1225-1228 ( (June) ) 1966;.
Windhorst, D.B.; Holmes, B.; and Good. R.A.:  A Newly Defined X-Linked Trait in Man With Demonstration of the Lyon Effect in Carrier Female , Lancet 1:737-739 ( (April 8) ) 1967;.
Baehner, R.L.. and Nathan, D.B.: Chronic Granulomatous Disease in a Female—Evidence For A Recessive Form , abstracted, Toronto: American Society Hematology, (Dec 3) , 1967;.
Quie, P.G., et al:  Defective Polymorphonuclear Leukocyte Function and Chronic Granulomatous Disease in Two Female Children , New Eng J Med 278:976-980 ( (May 2) ) 1968;.
Azimi, P., et al:  Chronic Granulomatous Disease in Three Sisters , Lancet 1:208-209 ( (Jan 27) ) 1968;.
Hirsch, J.G., and Church, A.B.:  Studies of Phagocytosis of Group A Streptococci by Polymorphonuclear Leukocytes in Vitro , J Exp Med 111:309-322 ( (March 1) ) 1960;.
Kahle, L.L.; Moreno. H.; and Kauder, E.: The Impotent Neutrophil Syndrome , abstracted. Atlantic City, NJ: Society Pediatric Research. (April 29) . 1967;.
Baehner, R.L., and Nathan, D.G.:  Leukocyte Oxidase: Defective Activity in Chronic Granulomatous Disease , Science 155:835-836 ( (Feb 17) ) 1967;.
Baehner. R.L., and Nathan. D.G.:  Quantitative Nitroblue Tetrazolium Test in Chronic Granulomatous Disease , New Eng J Med 971-980 ( (May 2) ) 1968;.
Landing, B.H.. and Shirkey, H.S.:  A Syndrome of Recurrent Infection and Infiltration of Viscera by Pigmented Lipid Histiocytes , Pediatrics 20:431-438 ( (Sept) ) 1957;.
Carson, M.J., et al:  Thirteen Boys With Progressive Septic Granulomatosis , Pediatrics 35:405-412 ( (March) ) 1965;.
Ford, D.K., et al:  Familial Lipochrome Pigmentation of Histiocytes With Hyperglobulinemia, Pulmonary Infiltration. Splenomegaly, Arthritis and Susceptibility to Infection , Amer J Med 33:478-489 ( (Oct) ) 1962;.
Davis, S.D.; Scheller, J.; and Wedgwood, R.J.:  Job's Syndrome , Lancet 1:1013-1015 ( (May 7) ) 1966;.
Holmes, B.; Page, A.R.; and Good, R.A.:  Studies of the Metabolic Activity of Leukocytes From Patients With a Genetic Abnormality of Phagocytic Function . J Clin Invest 46:1422-1432 ( (Sept) ) 1967;.
Quie, P.G., et al:  In Vitro Bactericidal Capacity of Human Polymorphonuclear Leukocytes: Diminished Activity in Chronic Granulomatous Disease of Childhood , J Clin Invest 46:668-679 ( (April) ) 1967;.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

Barendes, H.; Bridges, R.A.; and Good, R.A.:  A Fatal Granulomatosis of Childhood , Minn Med 40:309-312 ( (May) ) 1957;.
Bridges, R.A.; Barendes, H.; and Good. R.A.:  A Fatal Granulomatous Disease of Childhood , Amer J Dis Child 97:387-408 ( (April) ) 1959;.
Holmes, B., et al:  Fatal Granulomatous Disease of Childhood: An Inborn Abnormality of Phagocytic Function . Lancet 1:1225-1228 ( (June) ) 1966;.
Windhorst, D.B.; Holmes, B.; and Good. R.A.:  A Newly Defined X-Linked Trait in Man With Demonstration of the Lyon Effect in Carrier Female , Lancet 1:737-739 ( (April 8) ) 1967;.
Baehner, R.L.. and Nathan, D.B.: Chronic Granulomatous Disease in a Female—Evidence For A Recessive Form , abstracted, Toronto: American Society Hematology, (Dec 3) , 1967;.
Quie, P.G., et al:  Defective Polymorphonuclear Leukocyte Function and Chronic Granulomatous Disease in Two Female Children , New Eng J Med 278:976-980 ( (May 2) ) 1968;.
Azimi, P., et al:  Chronic Granulomatous Disease in Three Sisters , Lancet 1:208-209 ( (Jan 27) ) 1968;.
Hirsch, J.G., and Church, A.B.:  Studies of Phagocytosis of Group A Streptococci by Polymorphonuclear Leukocytes in Vitro , J Exp Med 111:309-322 ( (March 1) ) 1960;.
Kahle, L.L.; Moreno. H.; and Kauder, E.: The Impotent Neutrophil Syndrome , abstracted. Atlantic City, NJ: Society Pediatric Research. (April 29) . 1967;.
Baehner, R.L., and Nathan, D.G.:  Leukocyte Oxidase: Defective Activity in Chronic Granulomatous Disease , Science 155:835-836 ( (Feb 17) ) 1967;.
Baehner. R.L., and Nathan. D.G.:  Quantitative Nitroblue Tetrazolium Test in Chronic Granulomatous Disease , New Eng J Med 971-980 ( (May 2) ) 1968;.
Landing, B.H.. and Shirkey, H.S.:  A Syndrome of Recurrent Infection and Infiltration of Viscera by Pigmented Lipid Histiocytes , Pediatrics 20:431-438 ( (Sept) ) 1957;.
Carson, M.J., et al:  Thirteen Boys With Progressive Septic Granulomatosis , Pediatrics 35:405-412 ( (March) ) 1965;.
Ford, D.K., et al:  Familial Lipochrome Pigmentation of Histiocytes With Hyperglobulinemia, Pulmonary Infiltration. Splenomegaly, Arthritis and Susceptibility to Infection , Amer J Med 33:478-489 ( (Oct) ) 1962;.
Davis, S.D.; Scheller, J.; and Wedgwood, R.J.:  Job's Syndrome , Lancet 1:1013-1015 ( (May 7) ) 1966;.
Holmes, B.; Page, A.R.; and Good, R.A.:  Studies of the Metabolic Activity of Leukocytes From Patients With a Genetic Abnormality of Phagocytic Function . J Clin Invest 46:1422-1432 ( (Sept) ) 1967;.
Quie, P.G., et al:  In Vitro Bactericidal Capacity of Human Polymorphonuclear Leukocytes: Diminished Activity in Chronic Granulomatous Disease of Childhood , J Clin Invest 46:668-679 ( (April) ) 1967;.
CME Course for:


You need to register in order to view this quiz.


To understand the clinical management of acute heart failure syndromes.
Accreditation Information The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
To view and print your certificate and access a summary of your CME courses go to My CME.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.