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Leukocyte Adhesion Deficiency Workup

  • Author: Stephen J Nervi, MD; Chief Editor: Harumi Jyonouchi, MD  more...
Updated: Nov 18, 2014

Laboratory Studies

See the list below:

  • 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.

Imaging Studies

See the list below:

  • 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).

Other Tests

See the list below:

  • 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.


See the list below:

  • 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.

Histologic Findings

See the list below:

  • 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.
Contributor Information and Disclosures

Stephen J Nervi, MD Staff Physician, Department of Dermatology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Stephen J Nervi, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Sigma Xi

Disclosure: Nothing to disclose.


Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Monika I Sidor, MD Resident Physician, Department of Surgery, University of Michigan at Ann Arbor Medical School

Monika I Sidor, MD is a member of the following medical societies: Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD 

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Additional Contributors

Terry W Chin, MD, PhD Associate Clinical Professor, Department of Pediatrics, University of California, Irvine, School of Medicine; Associate Director, Cystic Fibrosis Center, Attending Staff Physician, Department of Pediatric Pulmonology, Allergy, and Immunology, Memorial Miller Children's Hospital

Terry W Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Federation for Clinical Research, American Thoracic Society, California Society of Allergy, Asthma and Immunology, California Thoracic Society, Clinical Immunology Society, Los Angeles Pediatric Society, Western Society for Pediatric Research

Disclosure: Nothing to disclose.

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Labial ulceration from which Escherichia coli was cultured in an 8-month-old girl with leukocyte adhesion deficiency type 1 (LAD I). Note the thin bluish scar at the superior aspect of the labia from an earlier cellulitis.
This 3-year-old girl had leukocyte adhesion deficiency type I (LAD I) with complete absence of CD18 expression. Note the typical gingivostomatitis, which was culture-negative for any pathogen.
This 10-month-old patient with severe leukocyte adhesion deficiency type I (LAD I) developed a cervical adenitis caused by Klebsiella pneumoniae. Following incision and drainage, wound healing took 4 months.
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