Leukocyte Adhesion Deficiency Workup

Updated: Oct 09, 2019
  • Author: Stephen J Nervi, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Workup

Laboratory Studies

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  • In leukocyte adhesion deficiency (LAD), the CBC count typically reveals leukocytosis (WBC count >20 X 109/L) in the absence of infection; leukocytosis dramatically increases with infection (WBC counts of 40-100 X 109/L are common).

  • Flow cytometry is used to assess the presence of the β2 integrins CD11a/CD18 (LFA-1 or aL/b2) on leukocytes, CD11b/CD18 (Mac-1 or aM/b2) on myeloid cells, and CD11c/CD18 (p150,95 or aX/b2) on myeloid cells.

  • In leukocyte adhesion deficiency II, the Bombay blood group phenotype is detected.

  • Preimplantation genetic diagnosis (PGD) of leukocyte adhesion deficiency I offers promise. The application of preimplantation genetic diagnosis has been developed to achieve a healthy pregnancy in one child. [9] Thus, some evidence suggests that, for couples carrying mutated genes, traditional prenatal diagnosis and the decision of whether to terminate a pregnancy might not be acceptable because the application of PGD provides an alternative.

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Imaging Studies

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  • CT scanning and MRI are essential for diagnosis of abdominal infections in these patients because of the defective phagocytic mobilization to the site of infection. Plain radiographic findings are often misleading because of the absence of pus or lobar consolidation in pneumonia.

  • Bone scanning and gallium scanning may be useful modalities in localizing infection in selected patients. Because gallium relies on the presence of phagocytic cells, gallium scan findings are most likely to be informative when patients with leukocyte adhesion deficiency have residual expression of integrins or when granulocytes are transfused to patients with severe leukocyte adhesion deficiency (absence of CD18 expression).

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Other Tests

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  • In leukocyte adhesion deficiency I, assays of random migration, chemotaxis, phagocytosis, and killing by neutrophils invariably show deficits in these functions. Phagocytic and killing defects are caused by the impaired recognition of iC3b-opsonized organisms. Antibody-mediated cellular cytotoxicity is also impaired.

  • In leukocyte adhesion deficiency I, lymphocyte functions requiring LFA-1 (the CD2 pathway) are impaired; mitogen responses may be decreased. The relationship of in vitro lymphocyte defects to clinical infections is not understood. Although antibody responses to the T-dependent phiX174 bacteriophage were found to be impaired, immunoglobulin levels and specific antibody responses to vaccines are typically normal.

  • Leukocyte adhesion deficiency II is not associated with defects in lymphocyte or antibody function. The decrease in biochemical activity of guanosine 5'-diphosphate-D-mannose dehydratase (GMD) may be measured.

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Procedures

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  • Bronchoscopy may be required to identify the etiology of pulmonary infection.

  • Spinal taps have been carried out without complication.

  • Surgical procedures are fraught with difficulty caused by the extremely delayed healing. In the author's experience, wet-to-dry dressing changes are successful in promoting healing; granulocyte transfusions were not clinically successful.

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Histologic Findings

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  • In both leukocyte adhesion deficiency I and leukocyte adhesion deficiency II, localized infections lack neutrophilic infiltrates or pus formation; edema and necrosis are the prominent findings.

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