Hyper IgM syndrome: The other side of the coin

Current Opinion in Pediatrics

Volumn 13, Issue 6, 2001, Pages 528-532

  Fuleihan, R L ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 ANTIGEN; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN;

ANHIDROTIC ECTODERMAL DYSPLASIA; ANTIGEN PRESENTING CELL; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; CLINICAL FEATURE; GENE THERAPY; GENETIC SCREENING; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA M; IMMUNE DEFICIENCY; LIVER FAILURE; LIVER TRANSPLANTATION; LYMPHOPROLIFERATIVE DISEASE; NEUTROPENIA; OPPORTUNISTIC INFECTION; PASSIVE IMMUNIZATION; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SCLEROSING CHOLANGITIS; SIGNAL TRANSDUCTION; X CHROMOSOMAL INHERITANCE;

ANTIGEN-PRESENTING CELLS; ANTIGENS, CD40; CD40 LIGAND; CHILD; ECTODERMAL DYSPLASIA; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; MUTATION;

EID: 0035675427     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200112000-00006     Document Type: Review

References (41)

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3. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM
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5. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
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11. Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression
12. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
13. Mutations in Activation-induced cytidine deaminase in patients with hyper IgM syndrome
14. The immune responses in CD40-deficient mice: Impaired immunoglobulin class switching and germinal center formation
15. CD40 deficient mice generated by RAG-2 deficient blastocyst complementation
16. Mice deficient for the CD40 ligand
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20. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme
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22. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
23. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
24. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
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28. Generation of memory B cells and plasma cells in vitro
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32. The role of CD40/CD154 interactions in the priming, differentiation, and effector function of helper and cytotoxic T cells
33. Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction
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37. Partially mismatched cord blood transplants in X-linked immunodeficiencies
38. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation
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40. Gene Ther of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
41. Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice