Neutrophil-specific granule deficiency
- E Richard Stiehm, MD
E Richard Stiehm, MD
- Editor-in-Chief — Allergy and Immunology
- Section Editor — Immunology and Immunodeficiency
- Distinguished Research Professor of Pediatrics
- David Geffen School of Medicine at UCLA
Neutrophil-specific granule deficiency (SGD, previously called lactoferrin deficiency) is a rare congenital disorder. The cardinal clinical feature is increased susceptibility to pyogenic infections. Patients often present with large, smoldering cutaneous infections that have persisted for months (picture 1). They may also have lung abscesses and mastoiditis. The major pathogens include Staphylococcus aureus, Pseudomonas aeruginosa, other enteric gram-negative bacteria, and Candida albicans.
The diagnosis can be made by simply examining a peripheral blood smear. The neutrophils lack their specific granules and have bilobed nuclei, resembling the Pelger-Huet anomaly (picture 2). Early diagnosis of infections, antimicrobial prophylaxis, and aggressive management of infectious complications are critical. Successful hematopoietic cell transplantation (HCT) was reported in one patient.
Other congenital defects in phagocytic function are discussed separately. (See "Primary disorders of phagocytic function: An overview" and "Chronic granulomatous disease: Pathogenesis, clinical manifestations, and diagnosis" and "Chronic granulomatous disease: Treatment and prognosis" and "Chediak-Higashi syndrome" and "Congenital neutropenia".)
An accurate estimate of the incidence or prevalence of neutrophil-specific granule deficiency (SGD) is difficult to obtain because the disease is so rare. Only a few cases in a handful of families have been reported worldwide since 1980, when the disorder was first defined . Four case reports in the 1970s of patients with recurrent pyogenic infections and neutrophil maturation defects, with absence of secondary granules and impaired neutrophil function, may also have been cases of SGD [2-5]. The disease occurs in both males and females .
Lactoferrin is absent in neutrophils of patients with neutrophil-specific granule deficiency (SGD), but normal levels of lactoferrin are secreted by nasal epithelial cells in these patients [7,8]. Levels of RNA for neutrophil-specific granule products, including lactoferrin, transcobalamin F, neutrophil collagenase, neutrophil gelatinase, and defensins, are greatly reduced in SGD bone marrow, compared with normal bone marrow .To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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