Details of Disease

General Information of Disease (ID: DIS6GFVU)

• Disease Name: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• Synonyms: SCID, T cell-negative, B cell-negative, NK cell-positive; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; severe combined immunodeficiency due to complete RAG1/2 deficiency; severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; SCID due to complete RAG1/2 deficiency; severe combined immunodeficiency due to complete RAG1-2 deficiency; severe combined immunodeficiency, B cell-negative; SCID due to complete RAG1-2 deficiency
• Definition: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DIS225UQ: T-B- severe combined immunodeficiency
  DIS6GFVU: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• Disease Identifiers:
  MONDO ID: MONDO_0011086
  MESH ID: C563311
  UMLS CUI: C1832322
  OMIM ID: 601457
  MedGen ID: 321935
  Orphanet ID: 331206

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKDC	TTK3PY9	Limited	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAG1	OTV131E4	Strong	Autosomal recessive	[2]
RAG2	OTG9UYTW	Strong	Autosomal recessive	[3]

References

• [1] Multiple defects in innate and adaptive immunologic function in NOD/LtSz-scid mice.J Immunol. 1995 Jan 1;154(1):180-91.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. J Clin Immunol. 2011 Apr;31(2):281-96. doi: 10.1007/s10875-010-9489-z. Epub 2010 Dec 24.