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T cell depletion in Wolf-Hirschhorn syndrome
S50 Abstracts
J ALLERGY CLIN IMMUNOL FEBRUARY 2004
SATURDAY 100
T Cell Depletion in Wolf-Hirschhorn Syndrome
D. M. Zacharias1, N. Tangsinmankong2; 1Department of Pediatrics, University of South Florida/All Children’s Hospital, St. Petersburg, FL, 2University of South Florida/All Children’s Hospital, St. Petersburg, FL. RATIONALE: Wolf-Hirschhorn syndrome (WHS), a genetic disorder due to a partial deletion of chromosome 4p16.3 has characteristic features such
as, facial abnormalities (i.e. microcephaly and frontal bossing), cardiac malformations, and mental retardation. B cell defects have also been described in several patients with WHS. However, T cell immunity has been noted to be normal in all previous reported subjects. We present a unique case of a child with WHS associated with a cell-mediated immunodeficiency. CASE REPORT: Genetic analysis of a 6 month old male with abnormal facies, an atrial septal defect, and failure to thrive revealed a microdeletion in 4p16.3 position consistent with WHS. The patient presented with recurrent skin abscess at 2 1/2 years of age. Culture of the abdominal abscess grew methicillin resistant S. aureus. METHODS AND RESULTS: Immunological evaluation revealed the following: Normal CBC; NBT 100%; Chemiluminescence assay, 32.6 x 106 CMP; total hemolytic complement, 70. Lymphocyte subset enumeration revealed an absolute CD4 count of 473. Lymphocyte proliferation assay revealed low responses following tetanus, S. aureus and Candida stimulations. However, evaluation of humoral immune function was found to be normal; antibody responses to diphtheria, tetanus and pneumococcal vaccines were in normal range. FISH analysis of chromosome 22q11 was found to be normal. The abdominal abscess responded to Clindamycin and Rifampin. CONCLUSIONS: Cell-mediated immunodeficiency can be seen in patients with WHS in the absence of humoral defects. WHS patient who have recurrent or persistent infections should have a complete immune evaluation, including cell-mediated immunity.
Abstracts S51
SATURDAY
J ALLERGY CLIN IMMUNOL VOLUME 113, NUMBER 2
J ALLERGY CLIN IMMUNOL FEBRUARY 2004
SATURDAY 100
T Cell Depletion in Wolf-Hirschhorn Syndrome
D. M. Zacharias1, N. Tangsinmankong2; 1Department of Pediatrics, University of South Florida/All Children’s Hospital, St. Petersburg, FL, 2University of South Florida/All Children’s Hospital, St. Petersburg, FL. RATIONALE: Wolf-Hirschhorn syndrome (WHS), a genetic disorder due to a partial deletion of chromosome 4p16.3 has characteristic features such
as, facial abnormalities (i.e. microcephaly and frontal bossing), cardiac malformations, and mental retardation. B cell defects have also been described in several patients with WHS. However, T cell immunity has been noted to be normal in all previous reported subjects. We present a unique case of a child with WHS associated with a cell-mediated immunodeficiency. CASE REPORT: Genetic analysis of a 6 month old male with abnormal facies, an atrial septal defect, and failure to thrive revealed a microdeletion in 4p16.3 position consistent with WHS. The patient presented with recurrent skin abscess at 2 1/2 years of age. Culture of the abdominal abscess grew methicillin resistant S. aureus. METHODS AND RESULTS: Immunological evaluation revealed the following: Normal CBC; NBT 100%; Chemiluminescence assay, 32.6 x 106 CMP; total hemolytic complement, 70. Lymphocyte subset enumeration revealed an absolute CD4 count of 473. Lymphocyte proliferation assay revealed low responses following tetanus, S. aureus and Candida stimulations. However, evaluation of humoral immune function was found to be normal; antibody responses to diphtheria, tetanus and pneumococcal vaccines were in normal range. FISH analysis of chromosome 22q11 was found to be normal. The abdominal abscess responded to Clindamycin and Rifampin. CONCLUSIONS: Cell-mediated immunodeficiency can be seen in patients with WHS in the absence of humoral defects. WHS patient who have recurrent or persistent infections should have a complete immune evaluation, including cell-mediated immunity.
Abstracts S51
SATURDAY
J ALLERGY CLIN IMMUNOL VOLUME 113, NUMBER 2