papillon-lefe'vre syndrome: neutrophil motility and killing defect in a child with recurrent severe infections

PAPILLON-LEFE\'VRE SYNDROME: NEUTROPHIL MOTILITY AND KILLING DEFECT IN A CHILD WITH RECURRENT SEVERE INFECTIONS

A case of palmoplantar hyperkeratosis with periodontosis and a history of recurrent severe pyoderma, pneumonia and multiple liver abscesses is described in a 12 year old girl. The patient demonstrated neutrophil dysfunction characterized by decreased random migration and chemotaxis and defective bactericidal activity. The exact immunopathological mechanism for susceptibility to infections i...

Recurrent Venous Thromboembolic Events in a Child with Severe Factor X Deficiency

Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.

Characterization of neutrophil function in Papillon-Lefèvre syndrome.

Papillon-Lefévre syndrome is a rare, inherited, autosomal-recessive disease, characterized by palmoplantar keratosis and severe prepubertal periodontitis, leading to premature loss of all teeth. Papillon-Lefévre syndrome is caused by a mutation in the cathepsin C gene, resulting in complete loss of activity and subsequent failure to activate immune response proteins. Periodontitis in Papillon-L...

Recurrent severe infections in a child with abnormal leukocyte function: possible relationship to increased microtubule assembly.

A 7-yr-old girl with a complex disorder of mesenchymal tissues characterized by recurrent life-threateni ng infections, growth retardation, difficulty in healing, hemangiomata, anemia, thrombocytopenia, and severe leukocyte dysfunction was studied. Detailed studies of her leukocytes revealed previously undescri bed ultrastructural and metabolic adnormalities. Centriole-associated microtubule co...

NEUTROPHIL CHEMOTACTIC DEFECT IN 60 PATIENTS WITH RICKETS

Neutrophil mobility in 60 patients with vitamin D-deficient rickets is studied, and the patients are followed after therapy by 600,000 units vitamin D. 28 of 60 patients (46%), had low chemotaxis for neutrophils before vitamin D injection (migration), and 36 of 60 (60%) had low random mobility. The results showed a significant improvement after vitamin D therapy furthermore, the level of c...

Neutrophil chemiluminescence defect in pediatric patients with recurrent pneumonias.