Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Background: Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte-specific protein tyrosine kinase (Lck) is a key component of the TCR signaling machinery. On the basis of its function, we considered LCK a candidate gene in patients with combined immunodeficiency.

Cellular DNA content parameters as prognostic indicators in human astrocytomas.

Objective: Clinical parameters such as grade, size and/or location of the tumor are good predictors of outcome in patients with astrocytoma. The objective of this study was to determine whether DNA content parameters have a prognostic significance for this group of tumors.

Methods: Following optimization and validation of methodology for evaluating cellular DNA content parameters (CDCP), tumor DNA ploidy and percent S phase fraction (SPF) were determined from 64 patients using formalin fixed, paraffin embedded specimens (mean coefficient of variation=4.

Correlation of histopathological variants, cellular DNA content, and clinical outcome in adenoid cystic carcinoma of the salivary glands.

Objective: To study the correlation between flow cytometrically measured DNA ploidy with prognostically important histopathologic groups and clinical outcome in patients with adenoid cystic carcinoma of the salivary glands.

Study Design: 46 tumor specimens were analyzed flow cytometrically for DNA content and assessed for histological grade. Correlations were made between tumor DNA ploidy and histopathological grade, and disease-free and overall survival of these patients.

Pseudoaneuploid subpopulations detected in normal upper aerodigestive tract mucosa consistent with physiological apoptosis in normally differentiating squamous mucosa.

Objectives: While evaluating the validity of using normal human mucosal cells from the upper aerodigestive tract as diploid standards for DNA content studies of squamous cell cancer of head and neck by flow cytometry, pseudoaneuploidy was frequently detected. The purpose of this study was to further evaluate these DNA content abnormalities encountered in normal human mucosal cells and correlate them to physiological apoptosis.

Study Design: Thirty-two specimens of upper areodigestive tract mucosa from 18 surgical resections, 11 fresh autopsies, and 3 buccal scrapings were examined for DNA content by flow cytometry.