Skip to main content Accessibility help
×
Home
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 3
  • Print publication year: 2005
  • Online publication date: August 2009

6 - Immunodeficiency in velo-cardio-facial syndrome

Summary

Velo-cardio-facial syndrome (VCFS) is one of a number of syndromes which are associated with monosomic deletions of chromosome 22q11.2. In the older child, school issues are common and the physician can often provide insight into the optimal learning environment for the child; however, this seldom is affected by the presence of immunodeficiency. The immunodeficiency does not correlate with any other clinical feature. This makes it difficult to determine which infants should be screened for immunodeficiency. The most conservative approach would be to perform simple screening studies for T-cell defects. Infants suspected of having VCFS/chromosome 22q11.2 deletion syndrome should have FISH analyses performed. The 22q11.2 deletion and the 10p deletion should be sought and can be tested simultaneously. Humoral immunity should be assessed in patients with recurrent infections. Although chromosome 22q11.2 deletion syndrome is classically considered a T-cell defect, there may be secondary antibody deficits.
REFERENCES
Berend, S. A., Spikes, A. S., Kashak, C. D.et al. (2000) Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Am. J. Med. Genet.., 91, 313–17.
Collard, H. R., Boeck, A., McLaughlin, T. M.et al. (1999) Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome. Clin. Immunol., 91, 156–62.
Conley, M. E., Beckwith, J. B., Mancer, J. F. & Tenckhoff, (1979) The spectrum of the DiGeorge syndrome. J. Pediatr., 94, 883–90.
Davies, K., Stiehm, E. R., Woo, P. & Murray, K. J. (2001) Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome. J. Rheumatol., 28, 2326–34.
Daw, S. C. M., Tayior, C., Kraman, M.et al. (1996) A common region of 10 p deleted in DiGeorge and velocardiofacial syndromes. Nat. Genet., 13, 458–60.
DiPiero, A. D., Lourie, E. M., Berman, B. W., Robin, N. H., Zinn, A. B. & Hostoffer, R. W. (1997) Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. J. Pediatr., 131, 484–6.
Driscoll, D. A., Budarf, M. L. & Emanuel, B. S. (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum Genet., 50, 924–33.
Duke, S. G., McGuirt, W. F. Jr. Jewett, T. & Fasano, M. B. (2000) Velocardiofacial syndrome: incidence of immune cytopenias. Arch. Otolaryn. Head Neck Surg., 126, 1141–5.
Edelmann, L., Pandita, R. K. & Morrow, B. E. (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet., 64, 1076–86.
Eicher, P. S., McDonald-McGinn, D. M., Fox, C. A., Driscoll, D. A., Emanuel, B. S. & Zackai, E. H.et al. (2000) Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J. Pediatr., 137, 158–64.
Gennery, A. R., Barge, D., O'Sullivan, J. J., Flood, T. J., Abinun, M. & Cant, A. J.et al. (2002) Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch. Dis. Child., 86, 422–5.
Goldmuntz, E., Clark, B. J., Mitchell, L. E.et al. (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cardiol., 32, 492–8.
Ham Pong, A. J., Cavallo, A., Holman, G. H., & Goldman, A. S. (1985) DiGeorge syndrome: long term survival complicated by Graves disease. J. Pediatr., 106, 619–20.
Hopkin, R. J., Schorry, E. K., Bofinger, M. & Saal, H. M. (2000) Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. J. Pediatr., 137, 247–9.
Jawad, A. F., McDonald-McGinn, D. M., Zackai, E. & Sullivan, K. E. (2001) Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J. Pediatr., 139, 715–23.
Junker, A. K. & Driscoll, D. A. (1995) Humoral immunity in DiGeorge syndrome. J. Pediatr., 127, 231–7.
Kasprzak, L., Kabustian, V. M., Elliott, A. M., Shevell, M., Lejtenyi, C. & Eydoux, P., (1998) Deletion of 22q11 in two brothers with different phenotype. Am. J. Med. Genet., 75, 288–91.
Kelley, D., Goldberg, R., Wilson, D.et al. (1993) Confirmation that the velo-cardiofacial syndrome is associated with haplo-insufficiency of genes at chromosome 22. Am. J. Med. Genet., 45, 308–12.
Kelley, R. I., Zackai, E. H., Emanuel, B. S., Kistenmacher, M., Greenberg, F. & Punnett, H. H. (1982) The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J. Pediatr., 101, 197–200.
Lin, A. E., Gavver, K. L., Diggans, G.et al. (1988) Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am. J. Med. Genet., 31, 533–48.
Lischner, H. W. & Huff, D. S. (1975) T-cell deficiency in DiGeorge syndrome. Birth Defects: Orig. Art. Ser., 11, 16–21.
Markert, M. L., Kostyu, D. D., Ward, F. E.et al. (1997) Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J. Immunol., 158, 998–1005.
Markert, M. L., Hummell, D. S., Rosenblatt, H. M.et al. (1998) Complete DiGeorge syndrome: persistence of profound immunodeficiency. J. Pediatr., 132, 15–21.
Markert, M. L., Boeck, A., Hale, L. P.et al. (1999) Transplantation of thymus tissue in complete DiGeorge syndrome. N. Engl. J. Med., 341, 1180–9.
McDonald-McGinn, D. M., Kirschner, R., Goldmuntz, E.et al. (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet. Counsel., 10, 11–24.
Moran, A. M., Colan, S. D., Mayer, J. E. Jr. & Velde, M. E. (1999) Echocardiographic identification of thymic hypoplasia in tetralogy of fallot/tetralogy pulmonary atresia. Am. J. Card., 84, 1268–71.
Motzkin, B., Marion, R., Goldberg, R., Shprintzen, R. & Saenger, P. (1993) Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J. Pediatr., 123, 406–10.
Muller, W., Peter, H. H., Wilken, M.et al. (1988) The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. Eur. J. Pediatr., 147, 496–502.
Muller, W., Peter, H. H., Kallfelz, H. C., Franz, A. & Rieger, C. H. (1989) The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur. J. Pediatr., 149, 96–103.
Pierdominici, M., Marziali, M., Giovannetti, A.et al. (2000) T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin. Exp. Immunol., 121, 127–32.
Pinchas-Hamiel, O., Engelberg, S., Mandel, M. & Passwell, J. H. (1994) Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome. Israel J. Med. Sci., 30, 530–2.
Ryan, A. K., Goodship, J. A., Wilson, D. I., et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798–804.
Schubert, M. S. & Moss, R. B. (1992) Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. Ann. All., 69, 231–8.
Schuffenhauer, S., Lichtner, P., Peykar-Derakhshandeh, P.et al. (1998) Deletion mapping on chromosome 10 p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur. J. Hum. Gen., 6, 213–25.
Smith, C. A., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D. M., Zackai, E. H. & Sullivan, K. E. (1998) Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin. Labor Diag. Immunol., 5, 415–17.
Sullivan, K., McDonald-McGinn, D., Driscoll, D.et al. (1997) Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum, 40, 430–6.
Sullivan, K. E., Jawad, A. F., Randall, P.et al. (1998) Lack of correlation between impaired T-cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin. Immunol. Immunopathol., 84, 141–6.
Sullivan, K. E., McDonald-McGinn, D., Driscoll, D., Emanuel, B. S., Zackai, E. H. & Jawad, A. F. (1999) Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin. Labor Diag. Immunol., 6, 906–11.
Tuvia, J., Weisselberg, B., Shif, I. & Keren, G. (1988) Aplastic anaemia complicating adenovirus infection in DiGeorge syndrome. Eur. J. Pediatr., 147, 643–4.
Esch, H., Groenen, P., Nesbitt, M. A.et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature, 406, 419–22.
Vincent, M. C., Heitz, F., Tricoire, J., et al. (1999) 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet. Counsel., 10, 43–9.
Yamagishi, H., Ishii, C., Maeda, J.et al. (1998) Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am. J. Med. Genet., 78, 319–21.