Selected bibliography

Primary immunodeficiency: introduction, 370 Combined immunodeficiency, 372

Severe combined immunodeficiency, 370

Prevalence and initial diagnosis, 371 Subclassification of severe combined immunodeficiency, 371 Molecular diagnosis, 372 Treatment, 372

Secondary defects in cellular immunity, 373 Primary antibody deficiency, 374

Presenting features of antibody deficiency, 375 Common variable immunodeficiency, 375 Differential diagnosis of primary and secondary antibody deficiency, 376

Management of antibody deficiency, 376 Primary defects in innate immunity

(IL-12/IFN-v and NFkB pathways), 377 Defects in complement components, 377

Diagnosis and treatment of complement deficiencies, 377 Selected bibliography, 378

Primary immunodeficiency: introduction, 370 Combined immunodeficiency, 372

Severe combined immunodeficiency, 370

Prevalence and initial diagnosis, 371 Subclassification of severe combined immunodeficiency, 371 Molecular diagnosis, 372 Treatment, 372

Secondary defects in cellular immunity, 373 Primary antibody deficiency, 374

Presenting features of antibody deficiency, 375 Common variable immunodeficiency, 375 Differential diagnosis of primary and secondary antibody deficiency, 376

Management of antibody deficiency, 376 Primary defects in innate immunity

(IL-12/IFN-v and NFkB pathways), 377 Defects in complement components, 377

Diagnosis and treatment of complement deficiencies, 377 Selected bibliography, 378

This chapter describes the clinical presentations and mechanisms of the immunodeficiency diseases, focusing on those disorders that affect lymphocytes and complement. Defects in neutrophils are dealt with in Chapter 17. Immunodeficiency is either primary or secondary to other diseases, transplantation and various drugs. Although the first description of a patient with primary immunodeficiency (PID) was half a century ago, it is only in the last decade that significant advances have been made in our understanding of the molecular mechanisms. Over 50 separate genetic defects in lymphocytes or monocytes/ macrophages are now known, mostly very rare and presenting in infants and young children. However, the majority of patients with PID do not yet have a defined condition and are 'classified' as having 'common variable immunodeficiency - CVID'. This disorder, as well as many of the known single-gene defects causing PID, is associated with autoimmunity to blood cells and lymphoma, and affected patients are often referred to haematologists.

Patients with PID can be broadly divided into three clinical groups: (i) those who present in infancy or early childhood with severe life-threatening infection (severe combined immunodeficiency, SCID); (ii) those presenting at any age with a defect predominantly affecting antibody production; and (iii) those with inherited complement deficiency. The first is a paediatric emergency, while those in the last group often remain undiagnosed for many years owing to the insidious onset of symptoms. In addition, there are rare inherited disorders affecting multisystems in which the immunodeficiency has a major influence on survival. There is a network of specialist centres in the UK for the diagnosis and management of PID, and most patients need referral. An important role for general practitioners and specialists such as haematologists is to recognize the characteristic clinical features of PID, have facilities to screen for the most common disorders and to have a working collaboration with a local immunologist who can provide specialized diagnostic tests.

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