Abstract: The methods and compositions of the invention find use in the clinical diagnosis of primary immunodeficiencies, particularly Wiskott-Aldrich related syndromes. The compositions of the invention include isolated nucleic acid molecules and oligonucleotide pairs suitable for use in amplifying regions of the Wiskott-Aldrich syndrome protein gene and in determining the nucleotide sequence of the Wiskott-Aldrich syndrome protein gene in a patient. The invention facilitates efficient, cost-effective amplification of one or more regions of the Wiskott-Aldrich syndrome protein gene. The nucleotide sequence of amplified DNA comprising one or more regions of the Wiskott-Aldrich Syndrome Protein gene can be determined using the methods and compositions of the invention. Knowledge of the patient's nucleotide sequence in the Wiskott-Aldrich Syndrome Protein gene allows diagnosis of the patient's primary immunodeficiency.

Abstract: The methods and compositions of the invention find use in the clinical diagnosis of TNFRSF6-related syndromes, particularly autoimmune lymphoproliferative syndrome (ALPS). The compositions of the invention include isolated nucleic acid molecules and oligonucleotide pairs suitable for use in amplifying regions of the TNFRSF6 gene and in determining the nucleotide sequence of the TNFRSF6 gene in a patient. The invention facilitates efficient, cost-effective amplification of one or more regions of the TNFRSF6 gene. The nucleotide sequence of amplified DNA comprising one or more regions of the TNFRSF6 gene can be determined. Knowledge of the patient's nucleotide sequence in the TNFRSF6 gene allows diagnosis of the patient.