[source]
pmid = PMID:31068971
title = A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
[diagnosis]
disease_id = OMIM:612840
disease_label = Leukocyte adhesion deficiency, type III
[text]
The index patient is a seven-month-old boy born to first cousins parents, presenting with a prolonged history of
fever and recurrent infections for 4 months. Parents reported intermittent bleeding episodes from the nose, mouth,
and anus that, during patient hospitalization, were unsuccessfully treated with broad-spectrum antibiotics and
packed red cells and platelets transfusion. Examination revealed a failure to thrive in the child, with both height
and body weight below the 3rd percentile. He had severe pallor, bruises all over the body, and there were bilateral
anterior and posterior cervical palpable lymph nodes, which were firm and tender.
The liver was also palpable; it was 9 cm in span, soft and non-tender, while a firm spleen was also palpable 3 cm in
its longitudinal axis. The previous record had shown bicytopenia and leukocytosis, growth of multiple microorganisms
in blood, including Burkholderia cepacia and Staphylococcus aureus, and persistently high inflammatory markers.
Extensive investigations done during this admission confirmed the anemia, thrombocytopenia, and leukocytosis.
Bone marrow aspiration and trephine biopsy showed cellular marrow. Basic primary immunodeficiency workup showed
normal immunoglobulin, while flow cytometry revealed normal CD18 expression.