Defect of neutrophil mobility with dominant inheritance in a family with Waardenberg's syndrome.

Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome.

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...

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...

A family with Bart-Pumphrey syndrome

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...

HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an ...