. Defectos de inmunidad adaptativa .

Panel Inmunodeficiencias combinadas (IDC) [37 genes]

Solicitar estudio
Consentimiento informado

Las inmunodeficiencias combinadas (IDC) son un grupo de enfermedades raras y congénitas, que se caracterizan por una respuesta inmune críticamente comprometida, aunque no tan severa como en la inmunodeficiencia combinada grave (IDCG). Las IDC están causadas por defectos genéticos que provocan una disminución del número de linfocitos T o una disfunción de los mismos; esto puede venir acompañado de defectos en los linfocitos B.

Características clínicas

  • Infecciones (viral, fúngica, bacteriana)
  • Autoinmunidad
  • Autoinflamación
  • Características sindrómicas
  • Inicio: infancia, niñez

Prevalencia

  • 1 : 75.000 – 1:100.000

Beneficios y manejo

  • Diagnóstico diferencial con IDCG
  • Consejo genético
  • Trasplante de células madre hematopoyéticas (TCMH)
  • Terapia génica
  • Evitar vacunas con cepas vivas

B2M, BCL10, BCL11B, CARD11, CARMIL2, CASP8, CD27, CD40, CD40LG, CD8A, CIITA, CTPS1, DOCK2, DOCK8, ICOS, IKBKB, IL21, IL21R, LAT, LCK, MAGT1, MALT1, MAP3K14, MSN, RELB, RFX5, RFXANK, RFXAP, RHOH, STK4, TAP1, TAP2, TAPBP, TFRC, TNFRSF4, UNC119, ZAP70

Panel incluido

Síndrome del linfocito desnudo - 13 genes

Fenotipos relacionados

Genes Fenotipo MIM PDH
B2M Immunodeficiency 43 (IMD43) | Amyloidosis, familial visceral 241600 | 105200 AR | AD
BCL10 Immunodeficiency 37 (IMD37) | Lymphoma, MALT, somatic 616098 | 137245 AR | SMu
BCL11B Immunodeficiency 49 (IMD49) 617237 AD
CARD11 Immunodeficiency 11A | Immunodeficiency 11B with atopic dermatitis | B cell expansion with NFKB and T cell anergy 615206 | 617638 | 616452 AR | AD
CARMIL2 Combined immunodeficiency (candidate gene) - AR
CASP8 Autoimmune lymphoproliferative syndrome, type IIB 607271 AR
CD27 Lymphoproliferative syndrome 2 615122 AR
CD40 Immunodeficiency with hyper-IgM, type 3 (HIGM3) 606843 AR
CD40LG Immunodeficiency, X-linked, with hyper-IgM (HIGM1) 308230 XLR
CD8A CD8 deficiency, familial 608957 AR
CIITA Bare lymphocyte syndrome, type II, complementation group A 209920 AR
CTPS1 Immunodeficiency 24 (IMD24) 615897 AR
DOCK2 Immunodeficiency 40 (IMD40) 616433 AR
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 AR
ICOS Immunodeficiency, common variable, 1 (CVID1) 607594 AR
IKBKB immunodeficiency 15 (IMD15) 615592 AR
IL21 Immunodeficiency, common variable, 11 (CVID11) 615767 AR | Mu
IL21R Immunodeficiency 56 (IMD56) | IgE, elevated level of 615207 | 147050 AR | AD
LAT Immunodeficiency 52 (IMD52) 617514 AR
LCK Immunodeficiency 22 (IMD22) 615758 AR
MAGT1 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 XLR
MALT1 Immunodeficiency 12 (IMD12) 615468 AR
MAP3K14 Combined immunodeficiency (candidate gene) - AR
MSN Immunodeficiency 50 (IMD50) 300988 XLR
RELB Immunodeficiency 53 (IMD53) 617585 AR
RFX5 Bare lymphocyte syndrome, type II, complementation group C | Bare lymphocyte syndrome, type II, complementation group E 209920 AR
RFXANK MHC class II deficiency, complementation group B 209920 AR
RFXAP Bare lymphocyte syndrome, type II, complementation group D 209920 AR
RHOH T-cell immunodeficiency with epidermodysplasia verruciformis (candidate gene) - AR
STK4 T cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 614868 AR
TAP1 Bare lymphocyte syndrome, type I (BLSI) 604571 AR
TAP2 Bare lymphocyte syndrome, type I (BLSI) 604571 AR
TAPBP Bare lymphocyte syndrome, type I (BLSI) 604571 AR
TFRC Immunodeficiency 46 (IMD46) 616740 AR
TNFRSF4 Immunodeficiency 16 (IMD16) 615593 AR | Mu
UNC119 Immunodeficiency 13 (IMD13) 615518 AD
ZAP70 Immunodeficiency 48 (IMD48) | Autoimmune disease, multisystem, infantile-onset, 2 269840 | 617006 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. Immune deficiency foundation (IDF). Stem Cell and Gen Therapy. https://primaryimmune.org/treatment-information/stem-cell-and-gene-therapy. Accessed April 5, 2018.
  3. 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.
  4. Lohmann K, Klein C. Next Generation Sequencing and the Future of Genetic Diagnosis. Neurotherapeutics. 2014;11(4):699-707. doi:10.1007/s13311-014-0288-8
  5. Paul Szabolcs M-CH of P of U. Combined Immune Deficiency (CID) Syndromes. http://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/combined-immune-deficiency-syndromes. Accessed April 5, 2018.