Primary phagocytic defects must be included in the differentialdiagnosis of recurrent infection and fever in a child and occasionallyin an adult. Early diagnosis is essential, because manifestationsof infection are usually blunted and rapid intervention canbe lifesaving. In general, patients are identified at a youngage on the basis of their susceptibility to normally nonpathogenicbacteria or fungi. In some cases, the infectious agents pointto the disorder (Table 1): catalase-positive microorganismsand aspergillosis species are characteristic of chronic granulomatousdisease,1 and atypical mycobacteria suggest a defect in theinterferon-interleukin-12 axis.2 These bacterial infections. . . [Full Text of this Article]
Congenital Neutropenias
Cyclic Neutropenia
Severe Congenital Neutropenia
The ShwachmanDiamond Syndrome
Treatment of Congenital Neutropenias
Defects of Adhesion
Defects of Signaling
Defects of Intracellular Killing
Defects in the Formation and Function of Neutrophil Granules
Myeloperoxidase Deficiency
The ChédiakHigashi Syndrome
Neutrophil-Specific Granule Deficiency
Conclusions
Source Information
From the Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Address reprint requests to Dr. Gallin at Bldg. 10, Rm. 2C146, 10 Center Dr., MSC 1504, Bethesda, MD 20892-1504, or at jgallin@cc.nih.gov.
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182: 6410-6417
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Roger, T., Calandra, T.
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106: 6889-6890
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Spinner, J. L., Cundiff, J. A., Kobayashi, S. D.
(2008). Yersinia pestis Type III Secretion System-Dependent Inhibition of Human Polymorphonuclear Leukocyte Function. Infect. Immun.
76: 3754-3760
[Abstract][Full Text]
Koprivnjak, T., Weidenmaier, C., Peschel, A., Weiss, J. P.
(2008). Wall Teichoic Acid Deficiency in Staphylococcus aureus Confers Selective Resistance to Mammalian Group IIA Phospholipase A2 and Human {beta}-Defensin 3. Infect. Immun.
76: 2169-2176
[Abstract][Full Text]
Marriott, H. M., Jackson, L. E., Wilkinson, T. S., Simpson, A. J., Mitchell, T. J., Buttle, D. J., Cross, S. S., Ince, P. G., Hellewell, P. G., Whyte, M. K. B., Dockrell, D. H.
(2008). Reactive Oxygen Species Regulate Neutrophil Recruitment and Survival in Pneumococcal Pneumonia. Am. J. Respir. Crit. Care Med.
177: 887-895
[Abstract][Full Text]
Palazzolo-Ballance, A. M., Reniere, M. L., Braughton, K. R., Sturdevant, D. E., Otto, M., Kreiswirth, B. N., Skaar, E. P., DeLeo, F. R.
(2008). Neutrophil Microbicides Induce a Pathogen Survival Response in Community-Associated Methicillin-Resistant Staphylococcus aureus. J. Immunol.
180: 500-509
[Abstract][Full Text]
Nakashima, T., Iwashita, T., Fujita, T., Sato, E., Niwano, Y., Kohno, M., Kuwahara, S., Harada, N., Takeshita, S., Oda, T.
(2008). A Prodigiosin Analogue Inactivates NADPH Oxidase in Macrophage Cells by Inhibiting Assembly of p47phox and Rac. J Biochem
143: 107-115
[Abstract][Full Text]
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(2007). G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood
109: 4716-4723
[Abstract][Full Text]
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(2007). Bacteria-associated haemophagocytic syndrome and septic pulmonary embolism caused by Burkholderia cepacia complex in a woman with chronic granulomatous disease. J Med Microbiol
56: 702-705
[Abstract][Full Text]
Remick, D. G.
(2007). Pathophysiology of Sepsis. Am. J. Pathol.
170: 1435-1444
[Abstract][Full Text]
Ledford, J. G., Kovarova, M., Koller, B. H.
(2007). Impaired Host Defense in Mice Lacking ONZIN. J. Immunol.
178: 5132-5143
[Abstract][Full Text]
Weinberg, J. B., Alexander, B. D., Majure, J. M., Williams, L. W., Kim, J. Y., Vandamme, P., LiPuma, J. J.
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45: 662-665
[Abstract][Full Text]
Link, D. C., Wun, T.
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2007: 143-171
[Full Text]
Germeshausen, M., Ballmaier, M., Welte, K.
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109: 93-99
[Abstract][Full Text]
Fontana, S., Parolini, S., Vermi, W., Booth, S., Gallo, F., Donini, M., Benassi, M., Gentili, F., Ferrari, D., Notarangelo, L. D., Cavadini, P., Marcenaro, E., Dusi, S., Cassatella, M., Facchetti, F., Griffiths, G. M., Moretta, A., Notarangelo, L. D., Badolato, R.
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107: 4857-4864
[Abstract][Full Text]
Hunt, C. L., Nauseef, W. M., Weiss, J. P.
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176: 4987-4994
[Abstract][Full Text]
Femling, J. K., Nauseef, W. M., Weiss, J. P.
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175: 4653-4661
[Abstract][Full Text]
Voyich, J. M., Braughton, K. R., Sturdevant, D. E., Whitney, A. R., Said-Salim, B., Porcella, S. F., Long, R. D., Dorward, D. W., Gardner, D. J., Kreiswirth, B. N., Musser, J. M., DeLeo, F. R.
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175: 3907-3919
[Abstract][Full Text]
Ueno, N., Takeya, R., Miyano, K., Kikuchi, H., Sumimoto, H.
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280: 23328-23339
[Abstract][Full Text]
Lau, D., Mollnau, H., Eiserich, J. P., Freeman, B. A., Daiber, A., Gehling, U. M., Brummer, J., Rudolph, V., Munzel, T., Heitzer, T., Meinertz, T., Baldus, S.
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102: 431-436
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Sanguigni, V., Ferro, D., Pignatelli, P., Del Ben, M., Nadia, T., Saliola, M., Sorge, R., Violi, F.
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348: 2416-2422
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de Rossi, L. W., Horn, N. A., Buhre, W., Gass, F., Hutschenreuter, G., Rossaint, R.
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