A young child with consanguineous parents has developmental delay and a history of multiple recurrent bacterial infections and short stature. He presents to the emergency department following trauma and requires a blood transfusion. Blood work identifies leukocytosis, neutrophilia, and the Bombay blood group (absent H antigen as well as absent A and B antigens). What is this patient's diagnosis?
Correct Answer: B
Rationale: The correct answer is B: Leukocyte adhesion deficiency (LAD) Type II. This diagnosis is supported by the patient's history of recurrent bacterial infections, leukocytosis, neutrophilia, and the Bombay blood group. LAD Type II is characterized by a defect in the CD18 integrin molecules, leading to impaired leukocyte adhesion and migration to sites of infection. The Bombay blood group is due to the absence of H antigen, which is also seen in LAD Type II.
A: Chediak-Higashi syndrome is characterized by recurrent infections, albinism, and peripheral neuropathy, not leukocyte adhesion deficiency.
C: CD18 deficiency is actually another term for LAD Type I, not LAD Type II.
D: Griscelli syndrome presents with silvery hair and immunodeficiency, but does not involve leukocyte adhesion deficiency.