Immunological and metabolical studies in two siblings with Papillon‐Lefevre syndrome

Abstract

Two cases of typical Papillon‐Lefevre syndrome in one family were reported. Neither patient showed evidence of systemic disease as assessed by the medical history and a battery of clinical laboratory tests including a screening system for the detection of inborn errors of metabolism. A survey of the patients’ immunological status, including lymphocyte transformation tests using mitogens and polymorphonuclear leukocyte chemoiaxis studies, gave no indication of disturbances in immunological functions and host defense mechanisms. Possible pathogenetic mechanisms are discussed.

Periodontal treatment of patients with Papillon–Lefèvre syndrome: a 3‐year follow‐up

“…An impaired chemotactic and phagocytic function of polymorphonuclear leukocytes (PMNs) has been described in many reports (Borroni et al 1985, Bimstein et al 1990, D'Angelo et al 1992, Brown et al 1993, Bullon et al 1993, Tinanoff et al 1995, Firatli et al 1996, Boutsi et al 1997, Ghaffer et al 1999, Liu et al 2000). In contrast to the above studies, Lyberg (1982) and Schroeder et al (1983), however, reported normal PMN chemotaxis. Few reports have addressed lymphocyte function in PLS.…”

Systemic disease and periodontitis: manifestations of neutrophil dysfunction

“…This alteration of polymorphonuclear neutrophil leukocyte function has not been observed in all cases. Both Lyberg and Schroeder et al reported normal neutrophil function including margination, chemotaxis, phagocytosis, degranulation of lysosomes and intracellular destruction in several children with Papillon‐Lefèvre syndrome who did not exhibit an increased susceptibility to infection (118, 152).…”

Role of Polymorphonuclear Leukocyte-Derived Serine Proteinases in Defense againstActinobacillus actinomycetemcomitans

“…Case studies on PLS patients in the last 25 years report contradictory findings. Several studies reported a depressed in vitro PMN chemotaxis (9,10,23,24,45,68,70,74), whereas others reported normal values (10,47,68,73). Similar conflicting results were found for phagocytosis (6,7,9,10,26,27,62,73), the capacity to kill S. aureus (6,10,54,62,70), and the production of hydrogen peroxide (2,5,6,10,42,55,62,68,71).…”