A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease
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.
Authors
- Loretta Parker (ORCID: https://orcid.org/0000-0002-2869-0432)
- Rosemary Moak
- Jeremy R. Brozyna (ORCID: https://orcid.org/0000-0001-6954-6704)
- T. Prescott Atkinson (ORCID: https://orcid.org/0000-0003-2528-6976)
Institutions
- University of Alabama at Birmingham (US)
- Pediatric Nephrology of Alabama (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-08-13
- DOI
- https://doi.org/10.70962/jhi.20250124
- Primary Topic
- Autoimmune and Inflammatory Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00