Comparative clinical morbidity of an (autosomal) agammaglobulinemic female and bruton's XLA - 25/08/11
Abstract |
Rationale |
We report the morbidity of an agammaglobulinemic female in contrast to that of XLA.
Methods |
This 13 y/o female has a history of recurrent sinopulmonary infections. Immunologic workup: panhypogammaglobulinemia; cytometry: <1% sIgM+, kappa/lambda+, CD19+, CD20+ PBL & BM lymphocytes. A CT scan demonstrated mild unilobar bronchiectasis. She developed respiratory distress with an O2 dependence. Repeat CT demonstrated diffuse (multilobar) bronchiectasis with cystic changes. Subsequently, she developed weight loss/enteritis. Endoscopy demonstrated duodenitis/villous atrophy resembling gluten-sensitive enteropathy. Recently, erythroid aplasia developed. Treatment consisted of: 1. High dose IVGG (1 gm/kg q 2 weeks) which resulted in an IgG trough of >800mg/dL, an 80% resolution of the diffuse bronchiectasis and cystic lesions, and a significant drop in O2 dependence. 2. Enteropathy clinically responded to a gluten and lactose free diet. 3. Erythroid aplasia transiently reversed after erythropoietin administration. In contrast, 2 brothers (17 & 19 years old) with XLA started IVGG replacement therapy at <2 years of age (500 mg/kg q 4 weeks; trough IgG of >750mg/dL). They have experienced no significant pulmonary, gastrointestinal or hematologic based morbidity.
Results |
Although X-linked and autosomal agammaglobulinemia manifest a similar arrest in B lymphocyte differentiation at the pre-B or the pro-B cell stage, the clinical morbidity is more severe in some autosomal forms. This is exemplified by the current case.
Conclusion |
Some forms of autosomal agammaglobulinemia may be associated with gene(s) that effect the function of B lymphocytes and other cell lineages and thus, result in a more severe immunodeficiency state.
Le texte complet de cet article est disponible en PDF. Funding: Self-funded |
Vol 113 - N° 2S
P. S125 - février 2004 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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