Case report highlights severe disease in a compound heterozygote with moderate CD18 levels, indicating challenges in leukocyte function.
Recurrent pneumonias and skin infections with persistent leukocytosis are concerning for leukocyte adhesion deficiency type-1. Intermittently normal neutrophil counts can be seen with partial deficiency. Compound heterozygotes, such as the patient described, may be predisposed for severe disease despite exhibiting moderate integrin expression profiles.
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Brozyna et al. (2025) studied this question.
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