Cytokines and Colony Stimulating Factors Methods and Protocols

Primary lmrnunodeficiencies Caused by Defects of Cytokines and Cytokine Receptors Volker Wahn 1. Introduction

The immune system responds to antigenic stimulation with a complex m a y uf molecular rvruls irlvulvirlg anligr~~-prrsenli~~g =Us, B-crlls, T-cells, m ~ d phagocytes. Cytokines and their respective receptors are intimately involved in icgulaling h u d l iulmunc ~ c s p u ~ ~ sThcir c s . pivulal ~ u l ccall LC illusl~alcd in atiitnal t~iodelsfor which certain cytokitles or their receptors have been deleted. It is beyond the scope of this review to discuss our knowledge on growth factor or receptor deficiencies derived fronl animal models. I would rather like to focus on observations in children with selective molecular defects. For example, pulmonary alveolar proteinosis in some patients has been found to be associated with mutations in the genes for granulocyte macrophage-colonystimulating factor (CM-CSFJ receptor p-chain, which is shared with receptors for interleukin a ) - 3 and IL-5. Certainly, in the future we should be aware of furthcr pathogcnic mutations in humms that, to datc, havc hccn dcmonstratcd in cxpcrimcntal animals only. Thc majority of mutations in cytokinc or cytokinc rcccptor gcncs rcsult in inherited immunodeficiencies. Our current knowledge on such disorders, therefore, will be summarized.

There is one report on defective IL-1 production associated with immunodeficiency with some evidence of familiality (I).The siblings described From: Meirms ,n1.ldemIar Bologf, vcl 2 ' 5 C,torneo an0 ZoMny %!mda'lng Frrton Wehods ard ~*O-IO +nfanny 1 1 n h m r ;no w ~ 6 % - 0 -.maria ~ r r r s l r r lotom h..