ProGenotyper™
Molecular Tests for Immune Deficiency

STAT3 ProGenotyper™ Test
Now Available
Test Code: 3099

This test in intended to detect dominant negative STAT3 mutations associated with type 1 Hyper-IgE Syndrome (HIES; Job’s Syndrome). HIES or Job’s Syndrome was first described in 1966 and is characterized by recurrent staphylococcal abscesses, pneumonia, eczema, hyperextensibility, and extreme elevation of IgE levels. Mutations in STAT3 (signal transducer and
activator of transcription 3) underlie the sporadic and dominant forms of Hyper-IgE syndrome. STAT3 signaling is critical in the generation of Th17 cells and these Th17 helper T-cells are believed to be critical in the clearance of fungal and extracellular bacterial infections. STAT3 exons 12-16, 20, and 21 are sequenced and compared to reference sequence NG_007370.

CD40L ProGenotyper™ Test
Coming Soon
Test Code: 3000

This test is intended for the detection of CD40 ligand (CD40L) mutations associated with X linked Hyper-IgM syndrome (XHIM). XHIM is an immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. CD40L on activated T-cells is necessary for interaction with B- cells expressing CD40 in the processes of B-cell proliferation, differentiation, and immunoglobulin class switch recombination. Defective expression of CD40L on CD4+ helper T-cells causes an important reduction or absence of isotype-switched memory B-cells. Affected individuals have low or absent secreted IgG and IgA, and normal or elevated serum IgM levels. All exons and intron/exon boundaries
are sequenced.

TACI ProGenotyper™ Test
Coming Soon
Test Code: 3001

This test in intended to detect the transmembrane activator and CAML interactor (TACI or TNFRSF13B) mutations associated with common variable immunodeficiency (CVID). CVID is a heterogeneous group of disorders characterized by hypogammaglobulinemia, antibody deficiency, and recurrent bacterial infections. These individuals suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and lymphoid and nonlymphoid malignancies. In a portion of the cases, familial or sporadic mutations in TACI were noted. This gene is involved in immunoglobulin class-switching. The impairment of this process is thought to be responsible for the phenotype. All exons and
intron/exon boundaries are sequenced.

Update on Anti-IgE

Testing for the Anti-IgE assay has resumed. The reference range has been updated to < 94 ng/mL. The test code (2105) has not changed. We appreciate your patience as we worked through the reagent issues. These autoantibodies have been implicated as a causative agent in autoimmune chronic urticaria. In addition, these autoantibodies have also been implicated as significant in atopic dermatitis and Hyper-IgE syndrome.

In the News

ACAAI 2009 Annual Meeting:
Visit us at Booth #618.

We are pleased to announce that IBT Laboratories has been selected to present four oral presentations and one poster at this year’s meeting. Below are the topics and schedule:

Oral Presentations

1:30 PM, Sunday, Nov. 8, 2009, Concurrent Session “B”, Room B214-215- “Development and Validation of a T-cell Activation Assay to Evaluate Delayed (Type IV) Drug Hypersensitivity Reactions”

1:45 PM, Sunday, Nov. 8, 2009,
Concurrent Session”C”, Room B217-218-“Development and Validation of a Test to Measure IgG Antibodies to the IgE Receptor I Alpha Protein for Evaluation of Autoimmune Chronic Urticaria”

2:45 PM, Sunday, Nov. 8, 2009, Concurrent Session “C”, Room B217-218- “Development and Validation of an Assay to Detect Loss of Function Mutations in Filaggrin”

2:15 PM, Monday, Nov. 9, 2009, Concurrent Session “C”, Room B217-218-“Evaluation of Pneumococcal Antibody Avidity and Concentration in Patients with Suspected Immunodeficiency”

Poster Presentation

Quantification of T-cell Excision Circles for Diagnosis of Immunodeficiency and Post-bone Marrow Transplant Monitoring”