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Combined immunodeficiency, X-linked(CIDX)

MedGen UID:
1720670
•Concept ID:
CN030319
•
Disease or Syndrome
Synonyms: CIDX; IMMUNODEFICIENCY 6
 
Gene (location): IL2RG (Xq13.1)
 
Monarch Initiative: MONDO:0010730
OMIM®: 312863

Professional guidelines

PubMed

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL
World J Pediatr 2024 Dec;20(12):1270-1282. Epub 2024 Nov 5 doi: 10.1007/s12519-024-00846-7. PMID: 39500858Free PMC Article
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4(+) T-cells for the treatment of Hyper IgM1.
Canarutto D, Asperti C, Vavassori V, Porcellini S, Rovelli E, Paulis M, Ferrari S, Varesi A, Fiumara M, Jacob A, Sergi Sergi L, Visigalli I, Ferrua F, González-Granado LI, Lougaris V, Finocchi A, Villa A, Radrizzani M, Naldini L
EMBO J 2023 Dec 1;42(23):e114188. Epub 2023 Nov 2 doi: 10.15252/embj.2023114188. PMID: 37916874Free PMC Article

Recent clinical studies

Etiology

Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy.
Pike-Overzet K, van der Burg M, Wagemaker G, van Dongen JJ, Staal FJ
Mol Ther 2007 Nov;15(11):1910-6. Epub 2007 Aug 28 doi: 10.1038/sj.mt.6300297. PMID: 17726455

Diagnosis

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL
World J Pediatr 2024 Dec;20(12):1270-1282. Epub 2024 Nov 5 doi: 10.1007/s12519-024-00846-7. PMID: 39500858Free PMC Article
Childhood-onset Takayasu arteritis and immunodeficiency: case-based review.
Sener S, Basaran O, Batu ED, Atalay E, Esenboga S, Cagdas D, Kuskonmaz BB, Bilginer Y, Ozaltin F, Oguz B, Duzova A, Tezcan I, Ozen S
Clin Rheumatol 2022 Sep;41(9):2883-2892. Epub 2022 Jul 20 doi: 10.1007/s10067-022-06295-9. PMID: 35854168
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
X chromosome linked immunodeficiency.
Schwaber J, Rosen FS
Immunodefic Rev 1990;2(3):233-51. PMID: 1981831

Therapy

Gene therapy for inherited immunodeficiency.
Touzot F, Hacein-Bey-Abina S, Fischer A, Cavazzana M
Expert Opin Biol Ther 2014 Jun;14(6):789-98. Epub 2014 Mar 8 doi: 10.1517/14712598.2014.895811. PMID: 24823313
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542

Prognosis

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL
World J Pediatr 2024 Dec;20(12):1270-1282. Epub 2024 Nov 5 doi: 10.1007/s12519-024-00846-7. PMID: 39500858Free PMC Article
X chromosome linked immunodeficiency.
Schwaber J, Rosen FS
Immunodefic Rev 1990;2(3):233-51. PMID: 1981831

Clinical prediction guides

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL
World J Pediatr 2024 Dec;20(12):1270-1282. Epub 2024 Nov 5 doi: 10.1007/s12519-024-00846-7. PMID: 39500858Free PMC Article
Invasive fungal infections in congenital immunodeficiencies.
Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
X chromosome linked immunodeficiency.
Schwaber J, Rosen FS
Immunodefic Rev 1990;2(3):233-51. PMID: 1981831

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    • ClinVar
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      Clinical tests in GTR
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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