ErkrankungSchwerer kombinierter Immundefekt, SCID; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein umfassendes differentialdiagnostisches panel mit einem Leitlinien-kuratierten core-Gen, 5 "core/core candidate"-Genen und insgesamt 34 kuratierten Genen gemäß der klinischen Diagnose Schwerer kombinierter Immundefekt, SCID
ID
SP1007
Anzahl Gene
35
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,5 kb (Core-/Basis-Gene)
74,5 kb (Erweitertes Panel)
74,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
- Mundschleimhaut (mind. zwei Abstrichtupfer)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ADA | 1092 | AR | |
ADA2 | 1536 | AR | |
IL2RG | 1110 | XLR | |
RAG1 | 3132 | AR | |
RAG2 | 1584 | AR | |
AK2 | 675 | AR | |
CARD11 | 3465 | AD und/oder AR und/oder SMu | |
CD247 | 492 | AR | |
CD3D | 516 | AR | |
CD3E | 624 | AR | |
CHD7 | 8994 | AD und/oder Impr | |
CORO1A | 1386 | AR | |
CTPS1 | 1776 | AR | |
DCLRE1C | 2079 | AR | |
FOXN1 | 1947 | AR | |
IKBKB | 2265 | AD und/oder AR und/oder SMu | |
IL21R | 1617 | AD und/oder AR | |
IL7R | 1380 | AR | |
JAK3 | 3375 | AR und/oder SMu | |
LAT | 922 | AR | |
LCK | 1530 | AR | |
LIG4 | 2736 | AR und/oder SMu und/oder Sus | |
NHEJ1 | 900 | AR | |
ORAI1 | 912 | AD und/oder AR | |
PAX1 | 1374 | AR | |
PNP | 870 | AR | |
PRKDC | 12293 | AR | |
PTPRC | 264 | AR und/oder Sus | |
RAC2 | 579 | AD | |
SMARCAL1 | 2865 | AR | |
STAT5B | 2364 | AR | |
STIM1 | 2058 | AD und/oder AR | |
TCN2 | 1284 | AR | |
TTC7A | 2577 | AR | |
ZAP70 | 1860 | AR |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder Impr
- AR
- AR und/oder SMu
- AR und/oder SMu und/oder Sus
- AR und/oder Sus
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D81.8
Bioinformatik und klinische Interpretation
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