A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development

Journal of Pediatrics

Volumn 148, Issue 3, 2006, Pages 404-406

  Moschese, Viviana ^a,b,c,d   Lintzman, Jiri ^a,b,c,d   Callea, Francesco ^a,b,c,d   Chini, Loredana ^a,b,c,d   Devito, Rita ^a,b,c,d   Carsetti, Rita ^a,b,c,d   Di Cesare, Silvia ^a,b,c,d   Geissman, Frédéric ^a,b,c,d   Brousse, Nicole ^a,b,c,d   Rossi, Paolo ^a,b,c,d   Durandy, Anne ^a,b,c,d  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b MASARYK UNIVERSITY   (Czech Republic)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; CD27 ANTIGEN; CD40 ANTIGEN; CD40 LIGAND; HLA ANTIGEN CLASS 2; IMMUNOGLOBULIN; IMMUNOGLOBULIN M; MONOCLONAL ANTIBODY;

ADOLESCENT; ANAPHYLACTIC SHOCK; ARTICLE; B CELL LYMPHOMA; B LYMPHOCYTE; CANCER CHEMOTHERAPY; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; DELAYED PUBERTY; DNA REPAIR; EPSTEIN BARR VIRUS; FEMALE; GENE SEQUENCE; GROWTH DISORDER; HUMAN; HYPERIMMUNOGLOBULINEMIA M; IMMUNE DEFICIENCY; IMMUNOFLUORESCENCE; IMMUNOGLOBULIN BLOOD LEVEL; INTRAUTERINE GROWTH RETARDATION; LYMPH NODE BIOPSY; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; LYMPHOID HYPERPLASIA; LYMPHOMA; MEMORY T LYMPHOCYTE; PRIORITY JOURNAL; PUBERTY DISORDERS; RECURRENT INFECTION; SOMATIC HYPERMUTATION; T LYMPHOCYTE; VIRUS INFECTION;

ADOLESCENT; CHILD; FEMALE; GROWTH DISORDERS; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; LYMPHATIC DISEASES; LYMPHOMA, B-CELL; PUBERTY, DELAYED;

EID: 33645973648     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.10.033     Document Type: Article

References (8)

1. Di Santo J.P., Bonnefoy J.Y., Gauchat J.F., Fisher A., and de Saint Basile G. CD40 ligand mutations in X-linked immunodeficiency with HyperIgM. Nature 361 (1993) 541-543
2. Ferrari S., Giliani S., Insalaco A., Al-Ghonaium A., Soresina A.R., Loubser M., et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyperIgM. Proc Natl Acad Sci USA 98 (2001) 1166-1170
3. Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the HyperIgM syndrome (HIGM2). Cell 102 (2000) 565-575
4. Imai K., Slupphaug G., Lee W.-I., Revy P., Nonoyami S., Catalan N., et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nature Immunol 4 (2003) 1023-1028
5. Imai K., Catalan N., Plebani A., Marodi L., Sanal O., Kumaki S., et al. Hyper-IgM type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class switch recombination. J Clin Invest 112 (2003) 136-142
6. de Saint Basile G., Tabone M.D., Durandy A., Phan F., and Fisher A. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. Eur J Immunol 29 (1999) 367-373
7. Lisowska-Grospierre B., Charron D.J., de Preval C., Durandy A., Griscelli C., and Mach B. A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR-negative lymphocytes from patients with combined immunodeficiency syndrome. J Clin Invest 76 (1985) 381-385
8. De Villartay J.P., Ponsignon C., de Chasseval R., Buck D., Le Gudayer G., and Villey I. Human and animal models of V(D)J recombination deficiency. Curr Opin Immunol 15 (2003) 592-598