Primary immunodeficiency diseases (PIDs) are inherent errors of immunity caused by genetic factors or congenital immune system dysplasia, leading to impairment of one or more functions of the human immune system. There are more than 300 different types of primary immunodeficiency diseases in the world, and researchers continue to find out more. They can be roughly divided into six groups based on the affected immune system, including B cell (antibody) deficiency, T cell deficiency, combination B and T cell deficiency, defective phagocytes, supplementary deficiencies and unknown (esthetic). The cause of PIDs is not fully understood, but is generally considered to be related to genetic factors. Problems in the genetic code serve as blueprints for generating the cells of the body (DNA), leading to many immune system defects. According to scientists’ research, one of the most common symptoms of PIDs is that infections are more frequent, more persistent, or more difficult to treat than a person with normal immune system. Symptoms and signs vary according to the type of PIDs and vary from person to person. However, they also share some common characteristics including frequent and recurrent inflammation, blood disorders, digestive problems and autoimmune disorders.
Scientists have found that gene deletion or mutation is one of the causes of primary immunodeficiency. In recent years, scientists have discovered a large deletion of the 2 Mb mono allelic in the 6q15 region, which leads to the the incidence of primary immunodeficiency. This deletion contains the genes MDN1, BACH2, MAP3K7, CASP8AP2 and GJA10. Haploin sufficiency of the transcription factor BACH2 has recently been described to cause immunodeficiency with autoimmunity. What’s more, hyper IgM syndrome (HIGM) is a rare primary immunodeficiency disease whose defects are associated with immunoglobulin class-switch recombination (IGC CSR) disorders. Therefore, any molecule involved in CSR such as CD40L, AID, CD40, UNG and NEMO can cause HIGM. In addition, chronic granulomatous disease (CGD) is also one of the PIDs caused by defects in the oxidative function of phagocytic cells. X-linked chronic granulomatous disease(X-CGD) accounts for about 2/3 of the total CGD. It is caused by mutation of CYBB gene. This gene mutation leads to the defect of the β subunit gp91phox of NADPH oxidase, which does not produce superoxide, thereby weakening or losing the bactericidal ability of phagocytic cells, resulting in repeated serious bacterial and/or fungal infections, as well as excessive inflammatory reactions, eventually forming granulation.
To better understand the consequences of these mutations in primary immunodeficiency-associated genes, our panel offers targeted enrichment sequencing by the Illumina MiSeq, and provides a comprehensive primary immunodeficiency panel library from which you can choose or customize for genetic testing of primary immunodeficiency.
(check the supplementary document for more genes)
For more information about the Custom Primary Immunodeficiency Panel or need other amplification requirements, please contact us.