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Title: Females with a disorder phenotypically identical to X-linked agammaglobulinemia

Abstract

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.

Authors:
 [1];  [2]
  1. Univ. of Tennessee College of Medicine, Memphis (United States)
  2. Children's Hospital of Philadelphia, PA (United States)
Publication Date:
OSTI Identifier:
6441557
Resource Type:
Journal Article
Journal Name:
Journal of Clinical Immunology; (United States)
Additional Journal Information:
Journal Volume: 12:2; Journal ID: ISSN 0271-9142
Country of Publication:
United States
Language:
English
Subject:
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

Citation Formats

Conley, M E, and Sweinberg, S K. Females with a disorder phenotypically identical to X-linked agammaglobulinemia. United States: N. p., 1992. Web. doi:10.1007/BF00918144.
Conley, M E, & Sweinberg, S K. Females with a disorder phenotypically identical to X-linked agammaglobulinemia. United States. https://doi.org/10.1007/BF00918144
Conley, M E, and Sweinberg, S K. 1992. "Females with a disorder phenotypically identical to X-linked agammaglobulinemia". United States. https://doi.org/10.1007/BF00918144.
@article{osti_6441557,
title = {Females with a disorder phenotypically identical to X-linked agammaglobulinemia},
author = {Conley, M E and Sweinberg, S K},
abstractNote = {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.},
doi = {10.1007/BF00918144},
url = {https://www.osti.gov/biblio/6441557}, journal = {Journal of Clinical Immunology; (United States)},
issn = {0271-9142},
number = ,
volume = 12:2,
place = {United States},
year = {Sun Mar 01 00:00:00 EST 1992},
month = {Sun Mar 01 00:00:00 EST 1992}
}