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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAdenosine deaminase 2 deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for ADA2 deficiency containing 1 guideline-curated core gene and altogether 20 curated genes according to the clinical signs

ID
AP9227
Number of genes
16 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
13,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADA21536NM_001282225.2AR
ADA1092NM_000022.4AR
CASP101368NM_001206524.2AD
FAS1008NM_000043.6AD
FASLG846NM_000639.3AD
GATA11242NM_002049.4XLR
GATA21443NM_032638.5AD
RPL11537NM_000975.5AD
RPL35A333NM_000996.4AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS17408NM_001021.6AD
RPS19438NM_001022.4AD
RPS24393NM_033022.4AD
RPS26348NM_001029.5AD
TSR2576NM_058163.3XL

Informations about the disease

Clinical Comment

Adenosine deaminase 2 (ADA2) deficiency is characterized by abnormal inflammation of various tissues with symptoms beginning anytime from infancy to adulthood. The severity of the disorder varies even among affected individuals in the same family. ADA2 deficiency causes abnormal, unprovoked inflammation that can damage tissues and organs, particularly by vasculitides in the skin, gastrointestinal system, liver, kidneys and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening with fevers, livedo racemosa, hepatosplenomegaly and recurrent strokes. Some patients suffer from additional immune system abnormalities increasing the risk of bacterial and viral infections. ADA2 deficiency is sometimes, but not unanimously, described as a form of polyarteritis nodosa, a disorder that causes systemic vasculitis. ADA2 deficiency is inherited in an autosomal recessive pattern. The DNA-diagnostic yield is not known, but it depends seriously on the quality of the clinical evaluation.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK544951/

 

Synonyms
  • Sympt.: Vasculitis, autoinflammation, immunodeficiency, hematologic defects syndrome (ADA2)
  • Alias: ADA2 Deficiency
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Gastric cancer, somatic (CASP10)
  • Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Lung cancer, susceptibility to (FASL)
  • Allelic: Lymphoma, non-Hodgkin, somatic (CASP10)
  • Allelic: Myelodysplastic syndrome, susceptibility to (GATA2)
  • Allelic: Sneddon syndrome [Livedo reticularis + cerebrovascular accidents] (ADA2)
  • Allelic: Squamous cell carcinoma, burn scar-related, somatic (FAS)
  • Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Allelic: Thrombocytopenia, XL, with/out dyserythropoietic anemia (GATA1)
  • Adenosine deaminase deficiency, partial (ADA)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Autoimmune lymphoproliferative syndrome, type IB (FASL)
  • Autoimmune lymphoproliferative syndrome, type II (CASP10)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 12 (RPL15)
  • Diamond-Blackfan anemia 13 (RPS29)
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (TSR2)
  • Diamond-Blackfan anemia 3 (RPS24)
  • Diamond-Blackfan anemia 4 (RPS17)
  • Diamond-Blackfan anemia 5 (RPL35A)
  • Diamond-Blackfan anemia 6 (RPL5)
  • Diamond-Blackfan anemia 7 (RPL11)
  • Diamond-Blackfan anemia 8 (RPS7)
  • Diamond-Blackfan anemia 9 (RPS10)
  • Diamond-Blackfan syndrome (RPL9)
  • Immunodeficiency 21 (GATA2)
  • Severe combined immunodeficiency due to ADA deficiency (ADA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined