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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
  • Mundschleimhaut (mind. zwei Abstrichtupfer)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ADA1092AR
ADA21536AR
IL2RG1110XLR
RAG13132AR
RAG21584AR
AK2675AR
CARD113465AD und/oder AR und/oder SMu
CD247492AR
CD3D516AR
CD3E624AR
CHD78994AD und/oder Impr
CORO1A1386AR
CTPS11776AR
DCLRE1C2079AR
FOXN11947AR
IKBKB2265AD und/oder AR und/oder SMu
IL21R1617AD und/oder AR
IL7R1380AR
JAK33375AR und/oder SMu
LAT922AR
LCK1530AR
LIG42736AR und/oder SMu und/oder Sus
NHEJ1900AR
ORAI1912AD und/oder AR
PAX11374AR
PNP870AR
PRKDC12293AR
PTPRC264AR und/oder Sus
RAC2579AD
SMARCAL12865AR
STAT5B2364AR
STIM12058AD und/oder AR
TCN21284AR
TTC7A2577AR
ZAP701860AR

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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