Follow-up study of immune defects in patients with dysmorphic disorders.
BACKGROUND
In a previous study, we noted immunologic abnormalities in 46 (54.8%) of 84 individuals with dysmorphic disorders.


OBJECTIVE
To reevaluate patients with dysmorphic disorders and immunologic abnormalities 2 to 3 years after an initial study to determine any changes in those abnormalities.


METHODS
Information was gathered regarding significant infections during the previous 12 months. Blood samples were drawn for the immunologic tests that were previously performed (IgG, IgA, and IgM level determinations; complete blood cell count; and lymphocyte subset enumeration) and for determination of IgG subclasses and T-cell activation by CD69 expression.


RESULTS
In the 21 patients available, 26 (63.4%) of the previously noted 41 low immunologic values were still present. In 5 patients, all previously noted immunologic abnormalities resolved. Of the 17 low values noted in 6 patients with Down syndrome, 12 (70.6%) were still present. Also, the 2 patients with Turner syndrome continued to have low IgA and IgM levels. Two patients had a low IgG4 level. A history of significant clinical infections within the previous 12 months was noted in 10 (58.8%) of 17 patients; 8 (47%) had current immune defects. There was a significantly lower T-cell response to staphylococcal enterotoxin B than in healthy controls. The T-lymphocyte activation response was low in 8 (38.1%) of the 21 patients.


CONCLUSIONS
Our study revealed a high rate of immune defects in patients with dysmorphic disorders, both during the initial study and 2 to 3 years later, which may contribute to their increased susceptibility to infections. This association was most obvious in patients with Down syndrome and Turner syndrome. The findings should alert for early immunologic evaluation when such patients have infections.
Cruz
Narlito V
NV
Section of Allergy/Immunology, Louisiana State University Health Sciences Center, Shreveport, Louisiana 71130-3932, USA.
Mahmoud
Sanaa A
SA
Chen
Harold
H
Lowery-Nordberg
Mary
M
Berlin
Kristin
K
Bahna
Sami L
SL
D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000378:metabolism; D000945:Antigens, Differentiation, T-Lymphocyte / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000150:complications* / Q000276:immunology*; D004314:Down Syndrome / Q000150:complications / Q000276:immunology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000276:immunology*; D006801:Humans; D007154:Immune System Diseases / Q000150:complications* / Q000276:immunology / Q000503:physiopathology; D007074:Immunoglobulin G / Q000097:blood; D037181:Lectins, C-Type; D008213:Lymphocyte Activation / Q000276:immunology; D008297:Male; D008875:Middle Aged; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D014424:Turner Syndrome / Q000150:complications / Q000276:immunology; D055815:Young Adult; D000099192:CD69 Antigens
D015703:Antigens, CD; D000945:Antigens, Differentiation, T-Lymphocyte; D007074:Immunoglobulin G; D037181:Lectins, C-Type; D000099192:CD69 Antigens