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Hypogammaglobulinemia in a patient with Turner Syndrome (TS) and Celiac Disease
Poster Title: Hypogammaglobulinemia in a patient with Turner Syndrome (TS) and Celiac Disease
Submitted on 12 Feb 2018
Author(s): S. Patel MD, F. Tabatabaian MD
Affiliations: University of South Florida Morsani College of Medicine, James A. Haley Veterans’ Hospital, Division of Allergy and Immunology, Department of Internal Medicine. Tampa, FL
This poster was presented at USF Research Day
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Poster Information
Abstract: Background:
TS, a rare chromosomal disorder that affects females, is characterized by loss of one of the X chromosomes. Clinical manifestations vary, which include short stature, cardiovascular and renal organ dysfunction, and premature ovarian failure. Intelligence is usually not affected. TS is associated with autoimmune diseases, such as Hashimoto’s thyroiditis and celiac disease. Although there is no established association between TS and immunodeficiency, there are few case reports describing subjects with TS and hypogammaglobulinemia.
Case description:
A 41-year-old female with TS, hypothyroidism, and recurrent otitis media as a child presents with severe vitamin deficiencies including: iron, vitamin B12 and vitamin D. She denies any history of abscesses, sinopulmonary or GI infections. Physical examination demonstrates a short-statured, cooperative female with normal vital signs, webbed neck, holosystolic murmur and no other abnormalities.
Summary: This is a rare report of TS with hypogammaglobulinemia and enteropathy secondary to celiac disease. Despite gluten-free diet, the patient continues to have hypogammaglobulinemia.References: 1.
Robson, Simon & Potter, Paul. (1990). Common variable immunodeficiency in association with Turner's syndrome. Journal of clinical & laboratory immunology. 32. 143-6.
2.BonamicoM, et al. Celiac Disease and Turner Syndrome. J Pediatric Gastroenterol Nutr. 1998 May; 26(5): 496-9.
3.Stenberg AE, et al. Immunological parameters in girls with Turner syndrome.J NegatResults Biomed.2004;3:6
4.CacciariE, et al. Serum immunoglobulins and lymphocyte subpopulations derangement in Turner’s syndrome.J Immunogenet.1981;8(5):337–344
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