Family members of patients with selective IgA deficiency should be routinely screened for primary immunodeficiency - 25/08/11
Abstract |
Rationale |
Although the pathogenesis of selective IgA deficiency (SIgAD) is poorly understood, inheritance patterns suggest it is autosomal dominant. Despite this fact, first-degree family members of patients diagnosed with SIgAD are not routinely screened for primary immunodeficiency, due in part to lack of symptomatology. We wish to present a case in which two asymptomatic adult children of a 45 year old white female with SIgAD were screened and found to have both IgA deficiency and anti-IgA antibodies.
Methods |
Bloodwork was first performed on the mother, and later on her children, and consisted of quantitative total serum Ig levels (IgM, IgG, IgA), serum IgE, IgG subtypes, anti-IgA antibody levels, humoral immune panel (diphtheria antitoxoid antibody, tetanus antitoxoid antibody, and a 6 serotype pneumococcal antibody panel), and a CBC with WBC count differential.
Results |
The mother's bloodwork revealed a total serum IgA level of <13mg/dL (normal 81 to 463mg/dL). Her son, age 20, had an IgA level of <14mg/dL with a borderline low IgM level of 39mg/dL (normal 48 to 271mg/dL), and her daughter, age 22, had an IgA level of 33mg/dL, suggesting a relative deficiency of serum IgA. Additionally, each child had detectable anti-IgA antibodies of the IgG isotype. All other remaining lab results were unremarkable.
Conclusions |
In order to decrease the morbidity and mortality of patients with SIgAD and/or carriers of anti-IgA antibodies, first-degree family members of individuals diagnosed with SIgAD should be routinely screened for primary immunodeficiency, regardless of their level of symptomatology.
Le texte complet de cet article est disponible en PDF. Funding: Self-funded |
Vol 113 - N° 2S
P. S126 - février 2004 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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