Marrow Notes

This child's presentation of recurrent bacterial infections, severe periodontitis, and marked leukocytosis is consistent with leukocyte adhesion deficiency (LAD) LAD is caused by defective integrins on the leukocyte surface, which normally allow neutrophils to adhere to vascular endothelium, exit the vasculature, and migrate to areas of infection or inflammation. Lack of neutrophil migration in LAD results in recurrent skin (eg, cellulitis, abscess, omphalitis) and mucosal (eg, periodontal) infections as well as poor wound healing. Examination shows inflammation with a notable lack of purulence. Biopsy of infected tissue is devoid of neutrophils and culture often grows Staphylococcus aureus or Gram-negative bacilli. Peripheral serum studies show marked leukocytosis and neutrophilia, particularly during episodes of infection. Classically, the first presenting sign of LAD is delayed umbilical cord separation (age >3 weeks). (Choice A) Adenosine deaminase deficiency is an autosomal recessive form of severe combined immunodeficiency, which is characterized by deficient formation of mature B and T lymphocytes. Severe combined immunodeficiency presents with severe infections and failure to thrive. Laboratory studies show marked lymphopenia. (Choice B) Patients with complement deficiencies are at increased risk for disseminated bacterial infections, particularly with encapsulated bacteria (eg, Streptococcus pneumoniae, Haemophilus influenzae, Neisseria meningitidis). Cutaneous infections and neutrophilia are not seen. (Choice C) Defective B lymphocyte maturation occurs in X-linked agammaglobulinemia (Bruton). Recurrent sinopulmonary and gastrointestinal infections with low B cell and immunoglobulin concentrations are typical. This female patient's history of periodontitis is inconsistent with X-linked agammaglobulinemia. (Choice D) Chronic granulomatous disease (CGD) is a defect in intracellular killing due to impaired respiratory burst from activated phagocytes. Patients with CGD present with infections from catalase-positive organisms (eg, Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia), Streptococcus pyogenesis catalase-negative and would be an unusual finding. In addition, patients with CGD do not have neutrophilia. Educational objective: Leukocyte adhesion deficiency presents with delayed umbilical cord separation, recurrent skin and mucosal bacterial infections (without purulence), and severe periodontal disease. Marked leukocytosis with neutrophil predominance is common.

A 4-year-old girl is brought to the ED due to severe oral pain. The patient's pain began 2 weeks ago with discomfort while chewing, and has progressively worsened to refusing any oral intake. She had a similar episode of oral pain last year. Medical history includes 2 sinus infections and numerous episodes of cellulitis. Skin cultures from her previous infections isolated Staphylococcus aureus and Streptococcus pyogenes. Physical examination shows periodontal inflammation with ulceration and necrosis. Laboratory results are as follows: CBC - Hemoglobin-11.8 g/dL Hematocrit-36% Platelets-240,000/mm³ Leukocytes-55,000/mm³ Neutrophils-90% Lymphocytes-8% Monocytes-2%

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