. Defectos de inmunidad adaptativa .

Panel Inmunodeficiencia común variable (IDCV) [25 genes]

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Consentimiento informado

La inmunodeficiencia común variable (IDCV) es la inmunodeficiencia primaria sintomática más frecuentemente diagnosticada en adultos. La IDCV abarca un conjunto de diversos trastornos genéticos que comparten una característica común: hipogammaglobulinemia con niveles reducidos o ausentes de linfocitos B. La fisiopatología de la IDCV es debida a un defecto de la respuesta humoral celular, causado por un fallo de diferenciación de células B, una ausencia de producción de inmunoglobulinas, una señalización de células T defectuosa o por una interacción alterada entre células B y T.

Características clínicas

  • Infecciones bacterianas (respiratoria, gastrointestinal, cutánea)
  • Agamma/hipogammaglobulinemia
  • Algunos casos con inflamación crónica y autoinmunidad
  • Inicio: infancia (XLA, HIGM); edad adulta (IDCV)

Prevalencia

  • 1:10.000 – 1:50.000
  • 1:143-1:18.500 deficiencia IgA

Beneficios y manejo

  • Diagnóstico diferencial: agammaglobulinemia, fibrosis quística, disquinesia ciliar primaria
  • Consejo genético
  • Reemplazo de inmunoglobulinas
  • Profilaxis antibiótica
  • Corticosteroides

ATP6AP1, CD19, CD81, CR2, CTLA4, CXCR4, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MOGS, MS4A1, NFKB1, NFKB2, PIK3CD, PIK3R1, PLCG2, PTEN, SEC61A1, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37

Fenotipos relacionados

Genes Fenotipo MIM PHD
ATP6AP1 Immunodeficiency 47 (IMD47) 300972 XLR
CD19 Immunodeficiency, common variable, 3 (CVID3) 613493 AR
CD81 Immunodeficiency, common variable, 6 (CVID6) 613496 AR
CR2 Immunodeficiency, common variable, 7 (CVID7) | Systemic lupus erythematosus 9, susceptibility to 614699 | 610927 AR | Mu
CTLA4 Autoimmune lymphoproliferative syndrome, type V | Celiac disease 3, susceptibility to | Diabetes mellitus, insulin-dependent, 12 | Hashimoto thyroiditis | Systemic lupus erythematosus, susceptibility to 616100 | 609755 | 601388 | 140300 | 152700 AD | Mu
CXCR4 WHIM syndrome 193670 AD
ICOS Immunodeficiency, common variable, 1 (CVID1) 607594 AR
IKZF1 Immunodeficiency, common variable, 13 (CVID13) 616873 AD
IL21 Immunodeficiency, common variable, 11 (CVID11) 615767 AR | Mu
IRF2BP2 Immunodeficiency, common variable, 14 (CVID14) 617765 AD
LRBA Immunodeficiency, common variable, 8, with autoimmunity (CVID8) 614700 AR
MOGS Congenital disorder of glycosylation, type IIb 606056 AR
MS4A1 Immunodeficiency, common variable, 5 (CVID5) 613495 AR
NFKB1 Immunodeficiency, common variable, 12 (CVID12) 616576 AD
NFKB2 Immunodeficiency, common variable, 10 (CVID10) 615577 AD
PIK3CD Immunodeficiency 14 (IMD14) 615513 AD
PIK3R1 Agammaglobulinemia 7, autosomal recessive | Immunodeficiency 36 (IMD36) | SHORT syndrome 269880 | 616005 | 615214 AR | AD
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome | Familial cold autoinflammatory syndrome 3 614468 | 614878 AD
PTEN Bannayan-Riley-Ruvalcaba syndrome | Cowden syndrome 1 | Endometrial carcinoma, somatic| Lhermitte-Duclos syndrome | Macrocephaly/autism syndrome | Malignant melanoma, SMu | PTEN hamartoma tumor syndrome | Squamous cell carcinoma, head and neck, SMu | VATER association with macrocephaly and ventriculomegaly | Glioma susceptibility 2 | Meningioma | Prostate cancer, SMu | 153480 | 158350 | 608089 | 158350 | 605309 | 155600 | 275355 | 276950 | 613028 | 607174 | 176807 AD | SMu
SEC61A1 Plasma cell deficiency (candidate gene)| Hyperuricemic nephropathy, familial juvenile, 4 - | 617056 AD
TNFRSF13B Immunodeficiency, common variable, 2 (CVID2) | Immunoglobulin A deficiency 2 240500 | 609529 AR | AD
TNFRSF13C Immunodeficiency, common variable, 4 (CVID4) 613494 AR
TNFSF12 Immunodeficiency (candidate gene) - AD
TRNT1 Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay | Retinitis pigmentosa and erythrocytic microcytosis 616959 | 616084 AR
TTC37 Trichohepatoenteric syndrome 1 222470 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. Ameratunga R, Woon S-T, Gillis D, Koopmans W, Steele R. New diagnostic criteria for Common Variable Immune Deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous Immunoglobulin. Clin Exp Immunol. July 2013:n/a-n/a. doi:10.1111/cei.12178
  2. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650-1657. doi:10.1182/blood-2011-09-377945
  3. Resnick ES, Cunningham-Rundles C. The many faces of the clinical picture of common variable immune deficiency. Curr Opin Allergy Clin Immunol. 2012;12(6):595-601. doi:10.1097/ACI.0b013e32835914b9
  4. Sathkumara HD, De Silva NR, Handunnetti S, De Silva AD. Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor. Int J Immunogenet. 2015;42(4):239-253. doi:10.1111/iji.12217
  5. Tam JS, Routes JM. Common variable immunodeficiency. Am J Rhinol Allergy. 2013;27(4):260-265. doi:10.2500/ajra.2013.27.3899.