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Phagocytic Cell Defects
Defects of neutrophil differentiation
Severe congenital neutropenia
Î SS 139. Patients with recurrent bacterial respiratory tract and soft
tissue infections, gingivostomatitis, and vaginal or rectal mucosal
ulceration should be screened with serial CBCs. (C)
Î SS 140. Patients with neutropenia should receive G-CSF. (C)
Î SS 141. HSCT should be considered for patients with severe chronic
neutropenia. (C)
Defects of neutrophil motility
Leukocyte adhesion deficiency (LAD) types I, II, and III
Î SS 142. LAD should be suspected in patients with cellulitis,
abscesses, or bacterial and fungal respiratory tract infections and
markedly increased WBC counts. (C)
Î SS 143. A blood cell count should be the first screening test for LAD. (C)
Î SS 144. LAD-I/II should be diagnosed by using flow cytometric
measurement of relevant phagocyte surface molecules. (C)
Î SS 145. Therapy for LAD-I/II should be supportive and dictated by
aggressive prevention and management of infections. (C)
Î SS 146. Fucose supplementation can ameliorate the course of LAD-II. (C)
Î SS 147. HSCT is curative for LAD-I and LAD-III and should be
considered early. (C)
Specific granule deficiency (SGD)
Î SS 148. SGD should be considered in patients with recurrent severe
bacterial infections of the skin and respiratory tract and normal
neutrophil counts. (C)
Î SS 149. Management of SGD should be supportive, but HSCT might
have a role. (C)
Other syndromes of defective neutrophil motility
Î SS 150. Additional genetic lesions should be investigated in patients
with clinical and laboratory features consistent with neutrophil defects
who are not found to have any of the disorders listed previously. (C)
Phagocytic Cell Defects
