Amyloidosis in a Child with Leucocyte Adhesion Deficiency Type-1: An Unusual Association

Abstract

Leucocyte adhesion deficiency type I (LAD I) is a rare autosomal recessive disorder of leucocyte function, characterized by delayed separation of the umblical cord, recurrent bacterial and fungal infections, defective wound healing and impressive constant blood neutrophilia. The authors report a child with genetic diagnosis of leucocyte adhesion deficiency (LAD) type I, who succumbed to his illness and developed amyloidosis preterminally. To the best of author's knowledge this is the first case of leucocyte adhesion deficiency type I associated with amyloidosis among the human LAD cases worldwide.

Infections and AA amyloidosis: An overview

“…Similarly, several primary immunodeficiencies have been associated with AA amyloidosis, including common variable immunodeficiency, 121‐130 X‐linked agammaglobulinemia, 131‐134 cyclic neutropenia, 135 chronic granulomatous disease, 84,136,137 hyperimmunoglobulin E syndrome, 138 and leucocyte adhesion deficiency 139 …”

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations

“…All reported mutations are systematically characterized for the LAD-I patients in western countries and few of Asian countries [7][8][9][10][11]. Apart from few case reports on clinical manifestations [12][13][14][15][16][17] there is paucity of data on the mutation pattern from India. Molecular characterization is required for confirmation of diagnosis in patients with LAD-I and also during prenatal diagnosis.…”