Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency

Journal Article · Fri Sep 01 04:00:00 EDT 1995 · Journal of Immunology

OSTI ID:160166

Stewart, D M; Kurman, C C; Staudt, L M ^[1]

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1. Univ. of Brescia (Italy); and others

In 1980 the clinical syndrome of X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) was described. XLA/GHD patients have reduced serum levels of Ig and normal cell-mediated immunity, and thus resemble patients with Bruton`s X-linked agammaglobulinemia (XLA). However, XLA/GHD patients also have isolated GHD. Mutations and deletions in the Bruton`s tyrosine kinase gene (BTK) are responsible for Bruton`s XLA. We investigated BTK gene expression in an XLA/GHD patient from the family originally described by Northern analysis, cDNA sequencing, and Western analysis of protein production using mAb to BTK. BTK mRNA was normal in size and abundance, and the mRNA sequence was normal over the coding region, except for a single silent mutation. BTK protein was present in normal amounts in PBMC of this patient. Thus, at the molecular level, XLA/GHD is a different disease entity from Bruton`s XLA. These results suggest that undescribed genes critical for B cell development and growth hormone production exist on the X chromosome. 17 refs., 4 figs.

• OSTI ID: 160166
• Journal Information: Journal of Immunology, Journal Name: Journal of Immunology Journal Issue: 5 Vol. 155; ISSN JOIMA3; ISSN 0022-1767
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANIMAL CELLS
DNA SEQUENCING
GENE MUTATIONS
GENE REGULATION
GENES
HEREDITARY DISEASES
HUMAN X CHROMOSOME
IMMUNOGLOBULINS
MESSENGER-RNA
METABOLIC DISEASES
ONTOGENESIS
PATIENTS
PHOSPHOTRANSFERASES
POLYMERASE CHAIN REACTION
PROBES
STH
TYROSINE