Variable presentation of primary immune deficiency: Two cases with CD3 gamma deficiency presenting with only autoimmunity

Pediatric Allergy and Immunology

Volumn 24, Issue 3, 2013, Pages 257-262

  Tokgoz, Huseyin ^a   Caliskan, Umran ^a   Keles, Sevgi ^a   Reisli, Ismail ^a   Guiu, Isabel Sánchez ^b,c   Morgan, Neil V ^b  

^a NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY OF MURCIA   (Spain)

Author keywords

Autoimmunity; CD3 deficiency; Children; Evans syndrome

Indexed keywords

CD3 ANTIGEN; CD3 GAMMA ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; CORTICOSTEROID; CYCLOSPORIN A; HEPATITIS B SURFACE ANTIBODY; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; STEROID; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN; UNCLASSIFIED DRUG;

ADULT; ANEMIA; ANTIBODY TITER; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNE HEPATITIS; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW EXAMINATION; CASE REPORT; CD3 GAMMA DEFICIENCY; CHILD; CHROMOSOME 11Q; DRUG MEGADOSE; EPISTAXIS; FEMALE; GENETIC SCREENING; GENOTYPE; GROWTH RETARDATION; HASHIMOTO DISEASE; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; INFECTION; LEUKOPENIA; LINKAGE ANALYSIS; LIVER BIOPSY; LYMPHOCYTOPENIA; MEDICAL HISTORY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; PERIPHERAL EDEMA; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIBLING; SPLICING DEFECT; STEROID THERAPY; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; ANTIBODIES; ANTIGENS, CD3; AUTOIMMUNITY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; PEDIGREE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; SEVERE COMBINED IMMUNODEFICIENCY; SIBLINGS; YOUNG ADULT;

EID: 84876440663     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/pai.12063     Document Type: Article

References (10)

1. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2011: 2: 54.
2. Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol 2008: 8 : 545-58.
3. Regueiro JR, Espanol T. CD3 and CD8 deficiencies. In: Ochs HD, Smith CIE, Puck JM (Eds). Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, second edition. New York, Oxford: Oxford University Press; 2007, 216-26.
4. Ozgur TT, Asal GT, Cetinkaya D, et al. Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease. Pediatr Transplant 2008: 12 : 910-3.
5. Arnaiz-Villena A, Timon M, Corell A, Perez-Aciego P, Martin-Villa JM, Regueiro JR. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lympho\-cyte receptor. N Engl J Med 1992: 327 : 529-33.
6. Allende LM, Garcia-Perez MA, Moreno A, Ruiz-Contreras J, Arnaiz-Villena A. Fourteen years' follow-up of an autoimmune patient lacking the CD3 gamma subunit of the T-lymphocyte receptor. Blood 2000: 96 : 4007-8.
7. Van Tol MJD, Sanal O, Langlois Van Den Bergh R, et al. CD3 g chain deficiency leads to a cellular immunodeficiency with mild clinical presentation. Immunologist 1997: 1 (Suppl): 41-3.
8. Regueiro JR, Arnaiz-Villena A, Ortiz de Landazuri M, et al. Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. Lancet 1986: 1 : 1274-5.
9. Haks MC, Krimpenfort P, Borst J, Kruisbeek AM. The CD3gamma chain is essential for development of both the TCR alpha beta and TCR gamma delta lineages. EMBO J 1998: 7: 1871-82.
10. Geisler C. Failure to synthesize the CD3-gamma chain. Consequences for T cell antigen receptor assembly, processing, and expression. J Immunol 1992: 8: 2437-45.