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Alterations of lymphocyte populations in some defined immunodeficiencies

Alterations of lymphocyte populations in some defined immunodeficiencies
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 anomaly nl, nl, nl, nl nl
CVID nl, nl, nl, nl, nl
SCID: severe combined immunodeficiency; JAK-3: Janus kinase 3; IL-7 R alpha: interleukin-7 receptor alpha chain (CD127) defect; SCID due to recombination defects: these include recombinase-activating genes 1 and 2 (RAG1 and RAG2), Artemis, DNA protein kinase catalytic subunit; ADA deficiency: adenosine deaminase deficiency; PNP deficiency: purine nucleoside phosphorylase deficiency; MHC: major histocompatibility complex; CD3 deficiency: deficiency of a component of CD3 (gamma, epsilon); ZAP-70 deficiency: deficiency of the CD3 zeta-associated 70 kd tyrosine kinase; NK deficiency: primary natural killer cell deficiency; XLA: X-linked agammaglobulinemia; WAS: Wiskott-Aldrich syndrome; AT: ataxia-telangiectasia; CVID: common variable immunodeficiency; nl: normal; p: the decrease is progressive over time.
* The percentage of natural killer (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.
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