. Defectos de inmunidad adaptativa .

Panel Inmunodeficiencias combinadas graves (IDCG) [19 genes]

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Consentimiento informado

La inmunodeficiencias combinadas graves (IDCG) representan un grupo de inmunodeficiencias primarias (IDP) raras, y potencialmente letales, caracterizadas por la falta de linfocitos T periféricos funcionales, que se clasifican como IDCG (T-B+) o IDCG (T-B-) en función de la presencia o ausencia de linfocitos B funcionales, respectivamente. En ambos casos, estos defectos pueden estar acompañados de ausencia de células NK funcionales. La IDCG es causada por alteraciones en distintos genes implicados en la maduración y la función del linaje de células T, células B y células NK.

Características clínicas

  • Infecciones severas (viral, fúngica, bacteriana) potencialmente letales
  • Diarrea
  • Retraso del crecimiento
  • Autoinmunidad
  • Inicio: neonatal, infancia

Prevalencia

  • 1-9:1.000.000
  • 40-100 neonatos/año en EEUU

Beneficios y manejo

  • Diagnóstico diferencial con SLD o agammaglobulinemia
  • Consejo genético
  • Trasplante de células madre hematopoyéticas (TCMH)
  • Terapia génica

ADA, AK2, CD247, CD3D, CD3E, CD3G, CORO1A, DCLRE1C, FOXN1, IL2RA, IL2RG, IL7R, JAK3, LIG4, NHEJ1, PRKDC, PTPRC, RAG1, RAG2

Paneles incluidos

Inmunodeficiencia combinada (T-B+) grave - 11 genes
Inmunodeficiencia combinada (T-B-) grave - 8 genes

Fenotipos relacionados

Genes Fenotipo MIM PDH
ADA Severe combined immunodeficiency due to ADA deficiency 102700 AR
AK2 Reticular dysgenesis 267500 AR
CD247 Immunodeficiency 25 (IMD25) 610163 AR
CD3D Immunodeficiency 19 (IMD19) 615617 AR
CD3E Immunodeficiency 18 (IMD18) 615615 AR
CD3G Immunodeficiency 17, CD3 gamma deficient (IMD17) 615607 AR
CORO1A Immunodeficiency 8 (IMD8) 615401 AR
DCLRE1C Omenn syndrome | Severe combined immunodeficiency, Athabascan type 603554 | 602450 AR
FOXN1 T cell immunodeficiency, congenital alopecia, and nail dystrophy 601705 AR
IL2RA Immunodeficiency 41 (IMD41) with lymphoproliferation and autoimmunity | Diabetes, mellitus, insulin-dependent, 10, susceptibility to 606367 | 601942 AR | Mu
IL2RG Combined immunodeficiency, X-linked, moderate | Severe combined immunodeficiency, X-linked 312863 | 300400 XLR
IL7R Severe combined immunodeficiency, T cell negative, B cell/natural killer cell-positive type 608971 AR
JAK3 SCID, autosomal recessive, T-negative/B-positive type 600802 AR
LIG4 LIG4 syndrome | Multiple myeloma, resistance to 606593 | 254500 AR | SMu
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 AR
PRKDC Immunodeficiency 26 with or without neurologic abnormalities 615966 AR
PTPRC Severe combined immunodeficiency, T cell-negative, B cell/natural killer-cell positive | Hepatitis C virus, susceptibility to 608971 | 609532 AR | Mu
RAG1 Severe combined immunodeficiency, B cell-negative | Combined cellular and humoral immune defects with granulomas | Omenn syndrome 601457 | 233650 | 603554 AR
RAG2 Severe combined immunodeficiency, B cell-negative | Combined cellular and humoral immune defects with granulomas | Omenn syndrome 601457 | 233650 | 603554 AR

(*) MIM: código identificador de OMIM (Online Mendelian Inheritance in Man); PDH: patrón de herencia; AD: herencia autosómico dominante; AR: herencia autosómico recesiva; XL: herencia ligada al cromosoma X; XLR: herencia recesiva ligada al cromosoma X; XLD: herencia dominante ligada al cromosoma X; Mu: herencia multifactorial; SMu: mutación somática.

Referencias

  1. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018;38(1):129-143. doi:10.1007/s10875-017-0465-8
  2. Fischer, A. (2000). Severe combined immunodeficiencies (SCID). Clinical and Experimental Immunology, 122(2), 143–149. https://doi.org/10.1046/J.1365-2249.2000.01359.X
  3. Immune deficiency foundation (IDF). Severe Combined Immune Deficiency and Combined Immune Deficiency. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/severe-combined-immune-deficiency-and-combined-immune-deficiency. Accessed April 5, 2018.
  4. National Human Genome Research Institute (NHGRI). Learning About Severe Combined Immunodeficiency (SCID). https://www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/. Published 2014. Accessed April 5, 2018.
  5. Rivers, L., & Gaspar, H. B. (2015). Severe combined immunodeficiency: recent developments and guidance on clinical management. Archives of Disease in Childhood, 100(7), 667–672. https://doi.org/10.1136/archdischild-2014-306425.