First report of successful stem cell transplantation in a child with CD40 deficiency [1]

Bone Marrow Transplantation

Volumn 40, Issue 3, 2007, Pages 279-281

  Mazzolari, E ^a   Lanzi, G ^a   Forino, C ^a   Lanfranchi, A ^a   Aksu, G ^b   Ozturk, C ^b   Giliani, S ^a   Notarangelo, L D ^a,c   Kutukculer, N ^b  

^a UNIVERSITY OF BRESCIA   (Italy)

^b EGE UNIVERSITY   (Turkey)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BUSULFAN; CD40 ANTIGEN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; FOSCARNET; IMMUNOGLOBULIN; IMMUNOGLOBULIN M; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; TETANUS TOXOID; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 5;

ANTIGEN EXPRESSION; CASE REPORT; COMBINED IMMUNODEFICIENCY; CYTOMEGALOVIRUS INFECTION; FEMALE; GENE DELETION; GENE MUTATION; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HOSPITAL ADMISSION; HUMAN; HYPOGAMMAGLOBULINEMIA; LETTER; LOWER RESPIRATORY TRACT INFECTION; NEUTROPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; TETANUS; UPPER RESPIRATORY TRACT INFECTION;

ANTIGENS, CD40; CHILD, PRESCHOOL; GRAFT SURVIVAL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MALE; REMISSION INDUCTION; SEVERE COMBINED IMMUNODEFICIENCY; TRANSPLANTATION, HOMOLOGOUS;

EID: 34547176738     PISSN: 02683369     EISSN: 14765365     Source Type: Journal    
DOI: 10.1038/sj.bmt.1705713     Document Type: Letter

References (7)

1. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001; 98: 12614-12619.
2. Notarangelo LD, Lanzi G, Peron S, Durandy A. Defects of class-switch recombination. J Allergy Clin Immunol 2006; 117: 855-864.
3. Geha RS, Plebani A, Notarangelo LD. CD40, CD40 ligand and the hyper-IgM syndrome. In: Ochs HD, Smith CIE, Puck JM (eds). Primary Immunodeficiency Diseases. A Molecular and Genetic Approach, 2nd edn. Oxford University Press: Philadelphia, PA, 2007, pp 251-268.
4. Fontana S, Moratto D, Mangal S, De Francesco M, Vermi W, Ferrari S et al. Functional defects of dendritic cells in patients with CD40 deficiency. Blood 2003; 102: 4099-4106.
5. Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A et al. Disseminated cryptosporidium infection in an infant with hyper-IgM sindrome caused by CD40 deficiency. J Pediatr 2003; 142: 194-196.
6. Gennery AR, Khawaja K, Veys P, Bredius RG, Notarangelo LD, Mazzolari E et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: A survey of the European experience, 1993-2002. Blood 2004; 103: 1152-1157.
7. Kutukculer N, Aksoylar S, Kansoy S, Cetingul N, Notarangelo LD. Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency. J Pediatr 2003; 143: 141-142.