©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
  • Oral mucosa (at least 2 swabs)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ADA1092AR
ADA21536AR
IL2RG1110XLR
RAG13132AR
RAG21584AR
AK2675AR
CARD113465AD, AR
CD247492AR
CD3D516AR
CD3E624AR
CHD78994AD
CORO1A1386AR
CTPS11776AR
DCLRE1C2079AR
FOXN11947AR
IKBKB2265AD, AR
IL21R1617AR
IL7R1380AR
JAK33375AR
LAT922AR
LCK1530AR
LIG42736AR
NHEJ1900AR
ORAI1912AR
PAX11374AR
PNP870AR
PRKDC12293AD
PTPRC264n.k.
RAC2579AD
SMARCAL12865AR
STAT5B2364AR
STIM12058AD
TCN21284AR
TTC7A2577AR
ZAP701860AR

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