Severe Combined Immunodeficiency (SCID) is a genetically heterogeneous group of disorders resulting from genetic defects in both cellular and humoral immunity where there is an impaired lymphocyte development and function. Aside from lymphocytes, other components of the innate and adaptive immune system such as neutrophils, macrophages, dendritic cells, complement proteins and natural killer cells are affected. Children present with bacterial, viral and fungal infections that begin during infancy and result in fatal outcome in the first few years of life if untreated. Early, accurate and precise diagnosis have enabled major advances in the care of infants with SCID, including better outcomes of allogeneic hematopoietic stem cell transplantation. The mode of inheritance of SCID determines the severity of the disease as different modes of inheritance will determine the immune cells that will be affected. Autosomal, sporadic or X-linked patterns may affect the neonate.
The Igenomix Severe Combined Immunodeficiency Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of early recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ADA | Autosomal Recessive | AR | 100 | 97 of 98 |
AK2 | Reticular | AR | 100 | 21 of 21 |
ATM | Ataxia- | AD,AR | 99.93 | 1608 of 1632 |
BCL11B | Immunodeficiency, | AD | 96.06 | 12 of 12 |
CARD11 | B-Cell Expansion | AD,AR | 100 | 30 of 31 |
CD247 | Immunodeficiency | AR | 100 | 4 of 4 |
CD3D | Immunodeficiency, | AR | 100 | 7 of 7 |
CD3E | Immunodeficiency, | AR | 99.95 | 9 of 9 |
CHD7 | Charge Syndrome, | AD | 96.25 | 823 of 896 |
CORO1A | Immunodeficiency | AR | 93 | 9 of 9 |
DCLRE1C | Omenn Syndrome, | AR | 99.99 | 72 of 73 |
DOCK8 | Hyperimmunoglobulin | AR | 99.92 | 106 of 114 |
EXTL3 | Skeletal Dysplasia-T-Cell | AR | 99.99 | 10 of 10 |
FOXN1 | T-cell Immunodeficiency, | AD,AR | 100 | 30 of 30 |
IKBKB | Immunodeficiency | AD,AR | 100 | 9 of 9 |
IL2RG | X-linked Combined | X,XR,G | 99.86 | – |
IL7R | Autosomal Recessive | AR | 100 | 54 of 55 |
JAK3 | Autosomal Recessive | AR | 99.98 | 86 of 88 |
LAT | Immunodeficiency | AR | 100 | 3 of 3 |
LIG4 | Lig4 Syndrome, | AR | 99.48 | 46 of 46 |
MTHFD1 | Combined | AR | 99.94 | 11 of 12 |
NHEJ1 | Cernunnos-Xlf | – | 100 | 12 of 14 |
ORAI1 | Immunodeficiency, | AD,AR | 91.93 | 20 of 22 |
PGM3 | Immunodeficiency | AR | 99.99 | 17 of 17 |
PNP | Immunodeficiency | AR | 99.73 | 39 of 39 |
PRKDC | Immunodeficiency With | AR | 99.74 | 9 of 10 |
PTPRC | Autosomal Recessive | AR | 99.98 | 7 of 7 |
RAC2 | Immunodeficiency With | AD,AR | 100 | 5 of 5 |
RAG1 | Combined Cellular And | AR | 100 | 193 of 193 |
RAG2 | Combined Cellular And | AR | 100 | 90 of 91 |
RMRP | Anauxetic Dysplasia, | AR | – | – |
STAT1 | Immunodeficiency, | AD,AR | 100 | 138 of 138 |
STIM1 | Immune Dysfunction | AD,AR | 100 | 28 of 28 |
TBX1 | Digeorge Syndrome, | AD,AR | 88.7 | 35 of 42 |
TTC7A | Gastrointestinal | AR | 100 | 44 of 45 |
XRCC4 | Short Stature, | AR | 99.73 | 10 of 10 |
ZAP70 | Severe Combined | AR | 99.99 | 30 of 30 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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