Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. 1991

K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
Section of Molecular Biology, University of Ulm, Germany.

Human severe combined immunodeficiency (SCID) patients were analyzed by a polymerase chain reaction assay for their recombination capability at the DHQ52-JH region of the immunoglobulin heavy chain locus. Five patients with B cells (B+ SCID) exhibited a recombination pattern also observed in healthy persons. In contrast, six patients lacking B cells (B- SCID) showed a grossly altered rearrangement pattern characterized by the (partial) absence of regular DHQ52-JH recombinations and the presence of abnormal rearrangements. These events were caused by deletions surpassing the boundaries of immunoglobulin coding elements and thus resemble the pattern of deletional recombinations previously described in SCID mice.

UI MeSH Term Description Entries
D007133 Immunoglobulin Joining Region A segment of the immunoglobulin heavy chains, encoded by the IMMUNOGLOBULIN HEAVY CHAIN GENES in the J segment where, during the maturation of B-LYMPHOCYTES; the gene segment for the variable region upstream is joined to a constant region gene segment downstream. The exact position of joining of the two gene segments is variable and contributes to ANTIBODY DIVERSITY. It is distinguished from the IMMUNOGLOBULIN J CHAINS; a separate polypeptide that serves as a linkage piece in polymeric IGA or IGM. Joining Region, Ig,Immunoglobulin Joining Region Peptide Fragments,Ig Joining Region,Joining Region, Immunoglobulin
D007135 Immunoglobulin Variable Region That region of the immunoglobulin molecule that varies in its amino acid sequence and composition, and comprises the binding site for a specific antigen. It is located at the N-terminus of the Fab fragment of the immunoglobulin. It includes hypervariable regions (COMPLEMENTARITY DETERMINING REGIONS) and framework regions. Variable Region, Ig,Variable Region, Immunoglobulin,Framework Region, Immunoglobulin,Fv Antibody Fragments,Fv Fragments,Ig Framework Region,Ig Variable Region,Immunoglobulin Framework Region,Immunoglobulin Fv Fragments,Immunoglobulin V,Antibody Fragment, Fv,Antibody Fragments, Fv,Fragment, Fv,Fragment, Fv Antibody,Fragment, Immunoglobulin Fv,Fragments, Fv,Fragments, Fv Antibody,Fragments, Immunoglobulin Fv,Framework Region, Ig,Framework Regions, Ig,Framework Regions, Immunoglobulin,Fv Antibody Fragment,Fv Fragment,Fv Fragment, Immunoglobulin,Fv Fragments, Immunoglobulin,Ig Framework Regions,Ig Variable Regions,Immunoglobulin Framework Regions,Immunoglobulin Fv Fragment,Immunoglobulin Variable Regions,Regions, Immunoglobulin Variable,Variable Regions, Ig,Variable Regions, Immunoglobulin
D007143 Immunoglobulin Heavy Chains The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa. Immunoglobulins, Heavy-Chain,Heavy-Chain Immunoglobulins,Ig Heavy Chains,Immunoglobulin Heavy Chain,Immunoglobulin Heavy Chain Subgroup VH-I,Immunoglobulin Heavy Chain Subgroup VH-III,Heavy Chain Immunoglobulins,Heavy Chain, Immunoglobulin,Heavy Chains, Ig,Heavy Chains, Immunoglobulin,Immunoglobulin Heavy Chain Subgroup VH I,Immunoglobulin Heavy Chain Subgroup VH III,Immunoglobulins, Heavy Chain
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011995 Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005260 Female Females

Related Publications

K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
March 1977, Transplantation proceedings,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
October 2002, Blood,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
January 1985, Arerugi = [Allergy],
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
January 2019, Frontiers in pediatrics,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
November 2021, Journal of clinical immunology,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
January 1998, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
January 1983, Birth defects original article series,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
April 1995, Scandinavian journal of immunology,
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
February 1999, Parasitology today (Personal ed.),
K Schwarz, and T E Hansen-Hagge, and C Knobloch, and W Friedrich, and E Kleihauer, and C R Bartram
July 2018, Indian journal of pediatrics,
Copied contents to your clipboard!