Filter by keywords:



Filtering documents. Please wait...

1/2. Selective polysaccharide antibody deficiency in familial digeorge syndrome.

    A family including three children with digeorge syndrome is described. One child died in the neonatal period from cardiac anomalies accompanying complete digeorge syndrome. The two surviving siblings shared a common set of pharyngeal pouch anomalies and immunodeficiency consistent with partial digeorge syndrome, and other morphologic anomalies characteristic of the velocardiofacial syndrome with which familial digeorge syndrome is associated (reviewed in reference 1). Both had normal karyotypes. Both presented with recurrent otitis media and sinopulmonary infections, CD4 T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens. Both had low serum IgM levels and IgG4 levels at the lower limits of normal. immunization with bacterial polysaccharides resulted in impaired IgG antibody responses to the same set of antigens (H. influenzae polyribophosphate and S. pneumoniae capsular serotypes 9N and 14), while responses to protein antigens were intact. Both siblings were treated successfully with intravenous gamma globulin. The pattern of selective antibody deficiency in these patients with familial digeorge syndrome suggests a heritable lesion in certain regulatory antipolysaccharide CD4 T cell subpopulations.
- - - - - - - - - -
ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

2/2. Di George anomaly and velocardiofacial syndrome.

    The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid hypoplasia and cardiac defects. The cases of individuals in two families help substantiate the notion that the Di George anomaly occurs as a feature of the velocardiofacial syndrome. The proband in family 1 was a male infant with persistent hypocalcemia and cardiac defects consisting of truncus arteriosus, atrial septal defect, ventricular septal defect, and abnormal aortic arch vessels. autopsy revealed absence of thymic and parathyroid tissue, and the Di George anomaly was diagnosed. His father had a submucous cleft palate, T cell dysfunction, and facial features consistent with the velocardiofacial syndrome. This is the third case of male-to-male transmission of velocardiofacial syndrome. The proband of family 2 was a 4-year-old girl with developmental delay, persistent neonatal hypocalcemia, ventricular septal defect, T cell dysfunction, and facial features of the velocardiofacial syndrome. The Di George anomaly has been reported to occur in at least 18 different disorders. The observation that the Di George anomaly is a component manifestation of the velocardiofacial syndrome in these two families provides further evidence that the Di George anomaly is not a distinct syndrome of a single origin but rather a heterogeneous developmental field defect. It is proposed that all previously reported cases of autosomal dominant Di George anomaly are examples of the velocardiofacial syndrome.
- - - - - - - - - -
ranking = 11
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)


Leave a message about 'Immunologic Deficiency Syndromes'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.