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Leukocyte Adhesion Deficiency (CD11a, CD11b, CD11c, CD18) by FLOW

Test Code

FLOW LAD

Test Synonyms

Beta2 integrin

Associations

Leuocycte adhesion, Phagocyte aggregation, CD18 (beta2 integrin) gene

Methodology

Flow Cytometry

Turnaround Time

1 day

Specimen Requirements

5.0 mL (min. 2.0 mL) heparin blood preferred, EDTA whole blood accepted
3.0 mL (min. 1.0 mL) heparin bone marrow aspirate preferred, EDTA bone marrow accepted
20 mm^3 bone marrow core biopsy in MPLN RPMI transport media

If RPMI media or MPLN RPMI transport media is not available, send in sterile saline

Specimen Stability
Whole blood, bone marrow , bone marrow biopsy in MPLN RPMI stable for 48 hours at 2-8°C
Storage & Handling

Whole blood, bone marrow or bone marrow biopsy, ship in a Styrofoam container with an cool/refrigerated pack (Do not allow the cool/refrigerated pack to directly contact the sample)

Causes for Rejection
Reference Range

See report

Description

Leukocyte adhesion deficiency (LAD) is a rare disorder of leukocyte function. LAD has been classified into two major subtypes and rare variants. 

LAD type 1 is the more common subtype and is characterized by decreased or absent expression of the CD11/CD18 complex, resulting in an inability of leukocytes to emigrate from the bloodstream to sites of inflammation. Severely affected infants present with delayed umbilical cord detachment, recurrent or progressive non-purulent infections, delayed wound healing and leukocytosis. Flow cytometry can be used to detect normal expression of the CD11/CD18 complex.

LAD type 2 is less common and is a disorder of fucosylation characterized by deficiency of sialyl Lewis X (sLex) and an inability of normal leukocyte rolling function on activated endothelium.

Other “variants” of LAD have been reported and include normal expression, but dysfunctional CD11/CD18; E selectin/CD62E expressed, but cleaved and present only as soluble form; and defective Rap-1 activator CalDAG-GEFI.

References
  1. Nervi SJ et al. (2007). Leukocyte Adhesion Deficiency. eMedicine.
  2. Cox et al. (2007). Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. a case report and review of the literature. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology.
  3. Hann et al. (2006). Pediatric Hematology. Blackwell Publishing.
  4. Lichtman et al. (2006). Hematology, 7th edition.  McGraw-Hill Companies, Inc. 935-938.
  5. Nervi SJ (2006). Leukocyte Adhesion Deficiency. eMedicine.
  6. Etzioni A. (2005). Leukocyte Adhesion Deficiency (LAD) Syndromes. Orphanet Encyclopedia.
  7. Keren et al. (2001). Flow Cytometry in Clinical Diagnosis 3rd edition. ASCP Press.