Genomics Precision Diagnostic > Immunology Precision Panel > Severe Combined Immunodeficiency Precision Panel

Severe Combined Immunodeficiency Precision Panel

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.

Overview

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.

Indication

The Igenomix Severe Combined Immunodeficiency Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Neonate with a family history of a known immunologic disorder
- Failure to thrive
- Recurrent upper and lower respiratory tract infections that do not respond to antibiotics
- Recurrent skin infections and delayed wound healing
- Underdeveloped lymphoid tissue

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment involving a multidisciplinary team focusing on haematopoietic stem cell transplantation, IVIG infusions and other prophylactic antibiotics, gene therapy and enzyme replacement.
Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ADA*	Autosomal Recessive Severe Combined Immunodeficiency, Omenn Syndrome	AR	100	97 of 98
*AK2*	Reticular Dysgenesia	AR	100	21 of 21
*ATM*	Ataxia- Telangiectasia	AD,AR	99.93	1608 of 1632
*BCL11B*	Immunodeficiency, Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	AD	96.06	12 of 12
*CARD11*	B-Cell Expansion With Nfkb And T-Cell Anergy, Card11 Immunodeficiency	AD,AR	100	30 of 31
*CD247*	Immunodeficiency Due To Defect In Cd3-zeta, Oligoarticular Juvenile Idiopathic Arthritis	AR	100	4 of 4
*CD3D*	Immunodeficiency, Severe Combined Immunodeficiency Due To Cd3delta/ Cd3epsilon/Cd3zeta	AR	100	7 of 7
*CD3E*	Immunodeficiency, Severe Combined Immunodeficiency Due To Cd3delta/ Cd3epsilon/Cd3zeta	AR	99.95	9 of 9
*CHD7*	Charge Syndrome, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Omenn Syndrome	AD	96.25	823 of 896
*CORO1A*	Immunodeficiency	AR	93	9 of 9
*DCLRE1C*	Omenn Syndrome, Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation, Omenn Syndrome, Severe Combined Immunodeficiency Due To Dclre1c Deficiency	AR	99.99	72 of 73
*DOCK8*	Hyperimmunoglobulin E-Recurrent Infection Syndrome, Combined Immunodeficiency Due To Dock8 Deficiency	AR	99.92	106 of 114
*EXTL3*	Skeletal Dysplasia-T-Cell Immunodeficiency- Developmental Delay Syndrome	AR	99.99	10 of 10
*FOXN1*	T-cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy, Infantile T-Cell Lymphopenia, Infantile, Severe Combined Immunodeficiency Due To Foxn1 Deficiency	AD,AR	100	30 of 30
*IKBKB*	Immunodeficiency	AD,AR	100	9 of 9
*IL2RG*	X-linked Combined Immunodeficiency, Omenn Syndrome, Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	X,XR,G	99.86	–
*IL7R*	Autosomal Recessive Severe Combined Immunodeficiency, Omenn Syndrome	AR	100	54 of 55
*JAK3*	Autosomal Recessive Severe Combined Immunodeficiency, Severe Combined Immunodeficiency Due To Jak3 Deficiency	AR	99.98	86 of 88
*LAT*	Immunodeficiency	AR	100	3 of 3
*LIG4*	Lig4 Syndrome, Multiple Myeloma, Dubowitz Syndrome	AR	99.48	46 of 46
*MTHFD1*	Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	AR	99.94	11 of 12
*NHEJ1*	Cernunnos-Xlf Deficiency	–	100	12 of 14
*ORAI1*	Immunodeficiency, Tubular Aggregate Myopathy, Stormorken-Sjaastad- Langslet Syndrome	AD,AR	91.93	20 of 22
*PGM3*	Immunodeficiency	AR	99.99	17 of 17
*PNP*	Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency	AR	99.73	39 of 39
*PRKDC*	Immunodeficiency With Or Without Neurologic Abnormalities	AR	99.74	9 of 10
*PTPRC*	Autosomal Recessive Severe Combined Immunodeficiency	AR	99.98	7 of 7
*RAC2*	Immunodeficiency With Defective Neutrophil Chemotaxis And Lymphopenia, Neutrophil Immunodeficiency Syndrome	AD,AR	100	5 of 5
*RAG1*	Combined Cellular And Humoral Immune Defects With Granulomas, Omenn Syndrome, Autosomal Recessive Severe Combined Immunodeficiency, Combined Immunodeficiency Due To Partial Rag1 Deficiency	AR	100	193 of 193
*RAG2*	Combined Cellular And Humoral Immune Defects With Granulomas, Omenn Syndrome, Autosomal Recessive Severe Combined Immunodeficiency, Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	AR	100	90 of 91
*RMRP*	Anauxetic Dysplasia, Cartilage-Hair Hypoplasia, Metaphyseal Dysplasia Without Hypotrichosis, Omenn Syndrome	AR	–	–
*STAT1*	Immunodeficiency, Mycobacterial And Viral Infections, Autoimmune Enteropathy And Endocrinopathy- Susceptibility To Chronic Infections Syndrome	AD,AR	100	138 of 138
*STIM1*	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect,Tubular Aggregate Myopathy, Stormorken Syndrome	AD,AR	100	28 of 28
*TBX1*	Digeorge Syndrome, Velocardiofacial Syndrome	AD,AR	88.7	35 of 42
*TTC7A*	Gastrointestinal Defects And Immunodeficiency Syndrome, Combined Immunodeficiency- Enteropathy Spectrum	AR	100	44 of 45
*XRCC4*	Short Stature, Microcephaly, And Endocrine Dysfunction, Lig4 Syndrome, Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	AR	99.73	10 of 10
*ZAP70*	Severe Combined Immunodeficiency, Combined Immunodeficiency Due To Zap70 Deficiency	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

Methodology

References

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Severe Combined Immunodeficiency Precision Panel

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.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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