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Immunodeficiency Risk Panel
Primary immunodeficiency refers to inherited disorders that affect the immune system's ability to defend against infections. These conditions, caused by genetic mutations, lead to deficiencies in immune components. Immunodeficiency testing refers to a series of diagnostic assessments used to evaluate the functionality and condition of the immune system. These tests are performed to identify potential deficiencies or abnormalities within the immune system, which may impair its ability to defend the body against infections, diseases, and other health threats.
Genes and Conditions
Outlining key gene mutations and their connections to specific immunodeficiency conditions. It underscores the importance of understanding the genetic basis of immunodeficiencies, aiding in diagnostics, treatment planning, and advancing our comprehension of immune system disorders.
Conditions | Genes |
|---|---|
Ataxia-Telangiectasia | ATM |
Serine/threonine kinase 4 Deficiency | STK4 |
Chronic Granulomatous Disease | CYBB |
Congenital Amegakaryocytic Thrombocytopenia (CAMT) | MPL |
Immunodeficiency 28 | IFNGR2 |
G6PD Deficiency | G6PD |
Factor V deficiency | F5 |
Myelodysplastic Syndrome in X-linked Agammaglobulinemia | BTK |
Hemophilia B | F9 |
Common Variable Immunodeficiency | TNFRSF13B, NFKB2 |
Familial Mediterranean fever | MEFV |
MyD88 deficiency | MYD88 |
Inherited factor XIII deficiency | F13B |
Severe Congenital Neutropenia (SCN) | JAGN1 |
Glycogen storage disease type I | G6PC |
Leukocyte Adhesion Deficiency Type 1 | ITGB2 |
RUNX1 familial platelet disorder | RUNX1 |
Constitutional Mismatch Repair Deficiency | PMS2 |
Breast cancer and Ovarian Cancer | BRACA1, BRCA2 |
Fanconi Syndrome | FANCC |
Omenn Syndrome | RAG1, RAG2 |
Chronic granulomatous disease | NCF1, CYBA |
Cohen Syndrome | VPS13B |
Factor VII (seven) deficiency | F7 |
Bloom's syndrome | BLM |
Combined Immunodeficiency | CDX1 |
Bare lymphocyte syndrome type II (BLS II) | RFXANK |
Hyper-Immunoglobulin E Syndrome | STAT3 |
Telomerase Deficiency | TERT |
Bannayan-Riley-Ruvalcaba syndrome | PTEN |
Netherton syndrome | SPINK5 |
Activated PI3K-delta syndrome (APDS)/ Immunodeficiency | PIK3CD |
Severe combined immunodeficiency | JAK2, CDX1 |
Constitutional mismatch repair deficiency syndrome | MSH2, MSH6 |
Congenital Afibrinogenemia | FGB |
Antibody Deficiency and Immune Dysregulation (PLAID) | PLCG2 |
Cystic Fibrosis | CFTR |
Melanoma | NRAS |
Homologous Recombination Repair Deficiency (HRD) | PALB2 |
Rectal Cancer | IFNGR1 |
systemic sclerosis | PTPRC |
Chronic Mucocutaneous Candidiasis | STAT1 |
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