Genes Evaluated
ADA, AIRE, ARX, ATM, ATRX, BLM, BRCA1, BRCA2, BTK, C1QBP, CASP10, CD40, CD70, CDKLS, CEBPA, CFTR, CHO?, COPA, CR2, CTLA4,DNASE2, EPCAM, FAS, FASLG, FCHO1, FGD1, FMR1, FOXP3, G6PD, GP1 BB, HUWE1, HYOU1, IL 1 RAPL 1, IL23R, IL2RB, IL2RG, IL6R,IL6ST, IL7R, ITCH, JAK1, JAK2, JAK3, KDMSC, KRAS, L1CAM, LIG1, LIG4, LRBA, MAP3K14, MECP2, MED12, MID1, MKL 1, MLH1, MSH2,MSH6, MTHFD1, NF1, NFKB1, NFKB2, NHEJ1, OCRL, PALB2, PMS2, POLE2, PRKCD, PTEN, PTPRC, RASGRP1, RELA, RIPK1, RLTPR,RPS6KA3, SLC16A2, SPPL2A, STAT3, TNFRSF13B, TP53.
Comprehensive Approach
This comprehensive panel includes genes implicated in both primary immunodeficiencies (e.g., SCIO, XLA, CVID) and conditions with secondary immune implications (e.g., cancer predisposition syndromes like BRCA 1/2, TP53). This broad test allows for a thorough investigation of genetic underpinnings that can guide treatment strategies, from targeted gene therapies and immunoglobulin replacement to personalized medicine approaches based on specific genetic mutations.
Gene Associations and Corresponding Immunodeficiency Disorders:
- ADA: Severe Combined Immunodeficiency (SCIO) due to adenosine deaminase deficiency.
- AIRE: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED).
- BTK: X-linked Agammaglobulinemia (XLA).
- CD40, CD40LG: Hyper lgM Syndrome.
- CD70: Combined Immunodeficiency.
- CFTR: Cystic Fibrosis, which can have associated immune system implications.
- FAS, FASLG: Autoimmune Lymphoproliferative Syndrome (ALPS).
- FOXP3: lmmunodysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome.
- IL2RG: X-linked SCIO.
- JAK3: Autosomal recessive SCIO.
- LRBA: LRBA Deficiency, an immune dysregulation syndrome.
- NFKB1, NFKB2: Immunodeficiency with or without Anhidrotic Ectodermal Dysplasia (EDA-ID).
- STAT3: Hyper-lgE Syndrome (Job syndrome).
- TNFRSF13B (TACI): Common Variable Immunodeficiency (CVID).
- TP53: Li-Fraumeni Syndrome, with implications for immune surveillance and cancer predisposition.
General Role of other Genes
- BRCA1, BRCA2, PALB2: Associated primarily with breast and ovarian cancer risk but also have roles in DNA repair mechanisms, potentially affecting immune system stability.
- ATM, ATRX, BLM: Involved in DNA repair and chromosomal stability, mutations can lead to conditions such as Ataxia Telangiectasia (ATM).
- CEBPA, CFTR, CHD7: These genes can be implicated in broader syndromic presentations where immune dysfunction may be a component.
- IL6R, IL6ST, IL7R: These genes are involved in cytokine signaling, essential for immune cell communication and function.
- ITCH, JAK1, KRAS, LIG1, LIG4: Mutations can lead to immunodeficiency disorders or predispose individuals to infections and autoimmune diseases.
- MECP2: Primarily associated with Rett Syndrome but may have immune system implications.
- MLH1, MSH2, MSH6, PMS2: Mismatch repair genes, associated with Lynch syndrome, also involved in DNA repair mechanisms affecting immune cell function.
- NF1: Neurofibromatosis type 1, which can have immune system implications.
- OCRL: Lowe Syndrome, affecting multiple systems including immune function.
- PTEN: PTEN Hamartoma Tumor Syndrome, including Cowden syndrome, with implications for immune regulation.
- RELA: Involved in NF-kB signaling pathway, essential for immune response regulation.
- SPPL2A: Essential for B-cell development, linked to B-cell immunodeficiency.