Details of Disease

General Information of Disease (ID: DISDB6K2)

• Disease Name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
• Synonyms: X-linked SCID; severe combined immunodeficiency T- B+, X-linked; severe combined immunodeficiency T- B+ due to gamma chain deficiency; severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; SCID, X-linked; SCIDX; X-SCID; immunodeficiency 4; severe combined immunodeficiency, X-linked; severe combined immunodeficiency, X-linked, X-linked recessive; T-B+ severe combined immunodeficiency, X-linked; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency; XSCID; SCID-X1; thymic epithelial hypoplasia; X-linked severe combined immunodeficiency; SCIDX1
• Definition: Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DISFRKM4: T-B+ severe combined immunodeficiency
  DISDB6K2: T-B+ severe combined immunodeficiency due to gamma chain deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0010315
  MESH ID: D053632
  UMLS CUI: C1279481
  OMIM ID: 300400
  MedGen ID: 220906
  Orphanet ID: 276

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
JAK3	TTT7PJU	Disputed	Biomarker	[1]
ADA	TTLP57V	Strong	Biomarker	[2]
IL15	TTJFA35	Strong	Genetic Variation	[3]
IL7	TT8FRMO	Strong	Genetic Variation	[4]
IL7R	TTAWI51	Strong	Altered Expression	[5]
LMO2	TTFX379	Strong	Biomarker	[6]
BTK	TTGM6VW	Definitive	Genetic Variation	[7]
EBI3	TTJF68X	Definitive	Genetic Variation	[8]
IL9	TT0JTFD	Definitive	Genetic Variation	[4]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FUT1	OTODG57A	Strong	Genetic Variation	[9]
IL18R1	OT83XMPQ	Definitive	Genetic Variation	[8]
IL2RG	OTRZ3OMY	Definitive	X-linked	[10]

References

• [1] The Common Cytokine Receptor Chain Family of Cytokines.Cold Spring Harb Perspect Biol. 2018 Sep 4;10(9):a028449. doi: 10.1101/cshperspect.a028449.
• [2] Clinical applications of gene therapy for primary immunodeficiencies.Hum Gene Ther. 2015 Apr;26(4):210-9. doi: 10.1089/hum.2015.047.
• [3] X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.J Korean Med Sci. 2004 Feb;19(1):123-6. doi: 10.3346/jkms.2004.19.1.123.
• [4] Thymopoiesis and T cell development in common gamma chain-deficient dogs.Immunol Res. 2003;27(2-3):235-46. doi: 10.1385/IR:27:2-3:235.
• [5] Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.Nat Genet. 1998 Dec;20(4):394-7. doi: 10.1038/3877.
• [6] Evaluating the Safety of Retroviral Vectors Based on Insertional Oncogene Activation and Blocked Differentiation in Cultured Thymocytes.Mol Ther. 2016 Jun;24(6):1090-1099. doi: 10.1038/mt.2016.55. Epub 2016 Mar 9.
• [7] Rational design and purification of human Bruton's tyrosine kinase SH3-SH2 protein for structure-function studies.Protein Expr Purif. 2000 Dec;20(3):365-71. doi: 10.1006/prep.2000.1316.
• [8] Efficacy of gene therapy for X-linked severe combined immunodeficiency.N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164.
• [9] Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency.PLoS One. 2012;7(9):e45173. doi: 10.1371/journal.pone.0045173. Epub 2012 Sep 13.
• [10] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.