Females with a disorder phenotypically identical to X-linked agammaglobulinemia

Journal Article · Sun Mar 01 00:00:00 EST 1992 · Journal of Clinical Immunology; (United States)

DOI:https://doi.org/10.1007/BF00918144· OSTI ID:6441557

Conley, M E ^[1]; Sweinberg, S K ^[2]

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1. Univ. of Tennessee College of Medicine, Memphis (United States)
2. Children's Hospital of Philadelphia, PA (United States)

Clinical and laboratory findings in two girls with a disorder phenotypically indistinguishable from typical X-linked agammaglobulinemia (XLA) are described. To examine the possibility that subtle defects in the X chromosome might explain the findings, detailed genetic studies were performed on one of these patients. Cytogenetic studies showed a normal 46XX karyotype. Southern blot analysis of her DNA showed that she had inherited a maternal and a paternal allele at sites flanking the locus for typical XLA at Xq22, making a microdeletion or uniparental disomy unlikely. To determine whether both of her X chromosomes could function as the active X, somatic-cell hybrids that selectively retained the active X were produced from her activated T cells. A normal random pattern of X inactivation was seen. Of 21 T-cell hybrids, 3 retained both X chromosomes, 7 had one X as the active X, and 11 had the other X as the active X. The authors have interpreted these studies as indicating that there is an autosomal recessive disorder that is phenotypically identical to XLA.

• OSTI ID: 6441557
• Journal Information: Journal of Clinical Immunology; (United States), Vol. 12:2; ISSN 0271-9142
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GLOBULINS-GAMMA
METABOLIC DISEASES
HUMAN X CHROMOSOME
GENETICS
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
GENE MUTATIONS
BIOLOGY
CHROMOSOMES
DISEASES
GLOBULINS
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
ORGANIC COMPOUNDS
PROTEINS
X CHROMOSOME
550400* - Genetics