Disease | CD3 | CD4 | CD8 | CD19/20 | CD16/56/57 |
X-linked SCID | ↓↓↓ | ↓↓↓ | ↓↓↓ | nl, ↑ | ↓ |
JAK3 SCID | ↓↓↓ | ↓↓↓ | ↓↓↓ | nl, ↑ | ↓ |
IL-7R-alpha SCID | ↓↓↓ | ↓↓↓ | ↓↓↓ | nl, ↑ | nl, ↑* |
SCID due to recombination defects¶ | ↓↓↓ | ↓↓↓ | ↓↓↓ | ↓↓↓ | nl, ↑* |
ADA deficiency | ↓↓↓ | ↓↓↓ | ↓↓↓ | ↓↓↓ | ↓↓↓ |
PNP deficiency | ↓ | ↓ p | ↓ p | nl | nl, ↑* |
MHC class II deficiency | ↓ | ↓↓ | ↓↓ | nl | nl |
Reticular dysgenesis | ↓↓↓ | ↓↓↓ | ↓↓↓ | ↓↓↓ | ↓↓↓ |
CD3 deficiency | ↓↓↓ | ↓↓↓ | ↓↓↓ | nl | nl |
ZAP-70 deficiency | nl | nl | ↓↓ | nl | nl |
NK deficiency | nl | nl | nl | nl | ↓↓↓ |
XLA | nl | nl | nl | ↓↓↓ | nl |
WAS | ↓ | ↓ p | ↓ p | nl | nl |
AT | ↓ | ↓ | ↓ | ↓ | nl |
DiGeorge syndrome | nl, ↓ | nl, ↓ | nl, ↓ | nl | nl |
CVID | nl, ↓ | nl, ↓ | nl, ↓ | nl, ↓ | nl |
SCID: severe combined immunodeficiency; JAK3: Janus kinase 3; IL-7R-alpha: interleukin 7 receptor alpha chain (CD127) defect; ADA: adenosine deaminase; PNP: purine nucleoside phosphorylase; MHC: major histocompatibility complex; CD3 deficiency: deficiency of a component of CD3 (gamma, epsilon); ZAP-70: CD3 zeta-associated 70 kd tyrosine kinase; NK: primary natural killer cell; XLA: X-linked agammaglobulinemia; WAS: Wiskott-Aldrich syndrome; AT: ataxia-telangiectasia; CVID: common variable immunodeficiency; nl: normal; p: progressive over time; DNA: deoxyribonucleic acid.
* The percentage of NK cells may be increased due to the absence of the subset principally affected in the disease. The absolute NK cell number is generally normal.
¶ SCID due to recombination defects. They include recombinase-activating genes 1 and 2 (RAG1 and RAG2), Artemis, and DNA protein kinase catalytic subunit.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟