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The primary immunologic deficiency diseases include congenital and acquired disorders of humoral immunity (B cell function) or cell-mediated immunity (T cell function) Most of these diseases are rare, and since they are genetically determined, are seen primarily in children Several immunodeficiency disorders affect adults and are discussed below The WHO classification of immunodeficiency disorders more often affecting adults is set forth in the accompanying box
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WHO CLASSIFICATION Primary Immunodeficiency Disorders: Selective IgA deficiency Common variable immunodeficiency X-linked agammaglobulinemia Immunodeficiency with normal serum globulins or hyperimmunoglobulinemia Immunodeficiency with thymoma Secondary Immunodeficiency Disorders (for example, AIDS)
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This disease is self-limited, so treatment is usually conservative Aspirin will relieve the arthralgias Antihistamines and topical corticosteroids will control the dermatitis Corticosteroid therapy may be necessary for serious reactions especially glomerulonephritis, neuropathy, and other manifestations of vasculitis
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PSEUDOALLERGIC REACTIONS
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These reactions resemble immediate hypersensitivity reactions but are not mediated by allergen-IgE interaction Instead, direct mast cell activation occurs Examples of pseudoallergic or anaphylactoid reactions include the now rare red man syndrome from rapid infusion of vancomycin, direct mast cell activation by opioids, and radiocontrast reactions In contrast to IgE-mediated reactions, these can often be prevented by prophylactic medical regimens
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Bonilla FA et al Update on primary immunodeficiency diseases J Allergy Clin Immunol 2006 Feb;117(2 Suppl MiniPrimer):S435 41 [PMID: 16455342] Buckley RH Primary immunodeficiency or not Making the correct diagnosis J Allergy Clin Immunol 2006 Apr;117(4): 756 8 [PMID: 16630930] Rudd CE Disabled receptor signaling and new primary immunodeficiency disorders N Engl J Med 2006 May 4;354(18): 1874 7 [PMID: 16672698]
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SELECTIVE IMMUNOGLOBULIN A DEFICIENCY
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Selective IgA deficiency is the most common primary immunodeficiency disorder and is characterized by the absence of serum IgA with normal levels of IgG and IgM; its prevalence is about 1:500 individuals Most persons are asymptomatic because of compensatory increases in secreted IgG and IgM Some affected patients have frequent and recurrent infections such as sinusitis, otitis, and bronchitis Some cases of IgA deficiency may spontaneously remit When IgG2 subclass deficiency occurs in combination with IgA deficiency, affected patients are more susceptible to encapsulated bacteria and the degree of immune impairment can be more severe Patients with a combined IgA and IgG subclass deficiency should be assessed for functional antibody responses to glycoprotein antigen immunization Atopic disease and autoimmune disorders can be associated with IgA deficiency Occasionally, a sprue-like syndrome with steatorrhea has been associated with an isolated
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Radiocontrast Media Reactions
Reactions to radiocontrast media do not appear to be mediated by IgE antibodies, yet clinically they are similar to anaphylaxis If a patient has had an anaphylactoid reaction to conventional radiocontrast media, the risk for a second reaction upon reexposure may be as high as 30% Patients with asthma or those being treated with -adrenergic blocking medications may be at increased risk The management of patients at risk for radiocontrast medium reactions includes use of the low-osmolality contrast preparations and prophylactic administration of prednisone (50 mg orally every 6 hours beginning 18 hours before the procedure) and diphenhydramine (25 50 mg intramuscularly 60 minutes before the procedure) The use of the lower-osmolality radiocontrast media in combination with the pretreatment regimen decreases the incidence of reactions to less than 1%
Allergic & Immunologic Disorders
IgA deficit Treatment with commercial immune globulin is ineffective, since IgA and IgM are present only in trace quantities in these preparations Frequent infusions of plasma (containing IgA) or unwashed blood transfusions are hazardous, since anti-IgA antibodies may develop, resulting in systemic anaphylaxis or serum sickness
Woof JM et al The function of immunoglobulin A in immunity J Pathol 2006 Jan;208(2):270 82 [PMID: 16362985]
CMDT 2008
frequently found in the spleen, liver, lungs, or skin There is an increased propensity for the development of B cell neoplasms (50- to 400-fold increase risk of lymphoma), gastric carcinomas, and skin cancers
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