IllnessSevere Combined Immuno Deficiency, SCID; differential diagnosis
Summary
Short information
A comprehensive differential diagnostic panel containing a guideline-curated core gene, 5 core/core candidate genes and altogether 34 curated genes according to the clinical diagnosis Severe Combined Immuno Deficiency, SCID
ID
SP1007
Number of genes
35
Accredited laboratory test
Examined sequence length
8,5 kb (Core-/Core-canditate-Genes)
74,5 kb (Extended panel: incl. additional genes)
74,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
- Oral mucosa (at least 2 swabs)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ADA | 1092 | AR | |
ADA2 | 1536 | AR | |
IL2RG | 1110 | XLR | |
RAG1 | 3132 | AR | |
RAG2 | 1584 | AR | |
AK2 | 675 | AR | |
CARD11 | 3465 | AD, AR | |
CD247 | 492 | AR | |
CD3D | 516 | AR | |
CD3E | 624 | AR | |
CHD7 | 8994 | AD | |
CORO1A | 1386 | AR | |
CTPS1 | 1776 | AR | |
DCLRE1C | 2079 | AR | |
FOXN1 | 1947 | AR | |
IKBKB | 2265 | AD, AR | |
IL21R | 1617 | AR | |
IL7R | 1380 | AR | |
JAK3 | 3375 | AR | |
LAT | 922 | AR | |
LCK | 1530 | AR | |
LIG4 | 2736 | AR | |
NHEJ1 | 900 | AR | |
ORAI1 | 912 | AR | |
PAX1 | 1374 | AR | |
PNP | 870 | AR | |
PRKDC | 12293 | AD | |
PTPRC | 264 | n.k. | |
RAC2 | 579 | AD | |
SMARCAL1 | 2865 | AR | |
STAT5B | 2364 | AR | |
STIM1 | 2058 | AD | |
TCN2 | 1284 | AR | |
TTC7A | 2577 | AR | |
ZAP70 | 1860 | AR |
Informations about the disease
Synonyms
- Allelic: Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
- Allelic: Hepatitis C virus, susceptibility to (PTPRC)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: IgE, elevated level of (IL21R)
- Allelic: Multiple myeloma, resistance to (LIG4)
- Allelic: Myopathy, tubular aggregate, 1 (STIM1)
- Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
- Allelic: Stormorken syndrome (STIM1)
- Adenosine deaminase deficiency, partial (ADA)
- B-cell expansion with NFKB + T-cell anergy (CARD11)
- CHARGE syndrome (CHD7)
- Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
- Combined immunodeficiency, XL, moderate (IL2RG)
- Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
- Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
- Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
- Immunodeficiency 10 (STIM1)
- Immunodeficiency 11A (CARD11)
- Immunodeficiency 11B with atopic dermatitis (CARD11)
- Immunodeficiency 15A (IKBKB)
- Immunodeficiency 15B (IKBKB)
- Immunodeficiency 18 (CD3E)
- Immunodeficiency 18, SCID variant (CD3E)
- Immunodeficiency 19 (CD3D)
- Immunodeficiency 22 (LCK)
- Immunodeficiency 24 (CTPS1)
- Immunodeficiency 25 (CD247)
- Immunodeficiency 26, with/-out neurologic abnormalities (PRKDC)
- Immunodeficiency 48 (ZAP70)
- Immunodeficiency 52 (LAT)
- Immunodeficiency 56 (IL21R)
- Immunodeficiency 73A with defective neutrophil chemotaxix + leukocytosis (RAC2)
- Immunodeficiency 73B with defective neutrophil chemotaxis + lymphopenia (RAC2)
- Immunodeficiency 73C with defective neutrophil chemotaxis + hypogammaglobulinemia (RAC2)
- Immunodeficiency 8 (CORO1A)
- Immunodeficiency 9 (ORAI1)
- Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
- LIG4 syndrome (LIG4)
- Omenn syndrome (RAG1, RAG2, DCLRE1C)
- Otofaciocervical syndrome 2 (PAX1)
- Reticular dysgenesis (AK2)
- SCID, autosomal recessive, T-negative/B-positive type (JAK3)
- Schimke immunoosseous dysplasia (SMARCAL1)
- Severe combined immunodeficiency + microcephaly, growth retard., sens. to ionizing radiation (NHEJ1)
- Severe combined immunodeficiency due to ADA deficiency (ADA)
- Severe combined immunodeficiency, Athabascan type (DCLRE1C)
- Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive (PTPRC)
- Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive (IL7R)
- Severe combined immunodeficiency, XL (IL2RG)
- Sneddon syndrome (ADA2)
- T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
- T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
- Transcobalamin II deficiency (TCN2)
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (ADA2)
- a/b T-cell lymphopenia + g/d T-cell expansion, severe cytomegalovirus infect., autoimmunity (RAG1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D81.8
Bioinformatics and clinical interpretation
No text defined