Celiac Disease and Selective IgA Deficiency in a Girl With Atypical Turner Syndrome

Selective IgA deficiency (SIgAD) is the most frequent primary immune defect. Since SIgAD is not characterized by relevant infectious issues in most cases, it is often diagnosed during the diagnostic work up of several and different autoimmune disorders, which are associated with this primary immune defect. The genetic background of SIgAD is complex and three HLA haplotypes resulted to be more frequently associated with it; in detail, two of them include HLA-DQB 1 ∗ 02 allelic variants, which are essential predisposing factors to develop Celiac Disease (CD). Here, we discuss the evidence regarding the role of HLA in the etiopathogenesis of SIgAD and its association with CD. Actually, the HLA region seems to play a modest role in the genetic predisposition to SIgAD and we may speculate that the association with the HLA-DQB 1 ∗ 02 alleles (or haplotypes including them) could derive from its link with CD. Indeed, SIgAD and some related immunological alterations are likely to predispose to several autoimmune diseases (with and despite different HLA backgrounds), including CD, which is relatively common and directly associated with the HLA-DQB 1 ∗ 02 allelic variants coding the DQ2 heterodimer. Further and specific studies are needed to make final conclusions in this regard.

Download Full-text

Symptomatic Secondary Selective IgM Immunodeficiency in Adult Man with Undiagnosed Celiac Disease

Case Reports in Immunology ◽

10.1155/2012/684247 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4

Author(s):

Eli Magen ◽

Viktor Feldman ◽

Mishal Joseph ◽

Hadari Israel

Keyword(s):

Celiac Disease ◽

Adult Patient ◽

Genetic Background ◽

Clinical Symptoms ◽

Iga Deficiency ◽

Gluten Free Diet ◽

Gluten Free ◽

Selective Iga Deficiency ◽

Igm Deficiency ◽

Secondary Condition

Selective IgM immunodeficiency (SIgMID) is a heterogeneous disorder with no known genetic background and may occur as a primary or a secondary condition. Celiac disease has been reported in association with several humeral immunodeficiencies, including isolated severe selective IgA deficiency, panhypogammaglobulinemia, and isolated combined IgA and IgM deficiency. There are only few reported cases of pediatric and adult patients with SIgMID and celiac disease. In this paper, we describe an adult patient with a symptomatic secondary SIgMID associated with undiagnosed celiac disease, with a resolution of clinical symptoms of immunodeficiency and serum IgM normalization following a gluten-free diet.

Download Full-text

Testing for IgG class antibodies in celiac disease patients with selective IgA deficiency.

Clinica Chimica Acta ◽

10.1016/j.cca.2007.03.028 ◽

2007 ◽

Vol 382 (1-2) ◽

pp. 95-99 ◽

Cited By ~ 46

Author(s):

Danilo Villalta ◽

Maria Grazia Alessio ◽

Marilina Tampoia ◽

Elio Tonutti ◽

Ignazio Brusca ◽

...

Keyword(s):

Celiac Disease ◽

Iga Deficiency ◽

Selective Iga Deficiency

Download Full-text

Diagnostic Accuracy of IgA Anti-Tissue Transglutaminase Antibody Assays in Celiac Disease Patients with Selective IgA Deficiency

Annals of the New York Academy of Sciences ◽

10.1196/annals.1398.025 ◽

2007 ◽

Vol 1109 (1) ◽

pp. 212-220 ◽

Cited By ~ 29

Author(s):

D. VILLALTA ◽

M. G. ALESSIO ◽

M. TAMPOIA ◽

E. TONUTTI ◽

I. BRUSCA ◽

...

Keyword(s):

Celiac Disease ◽

Diagnostic Accuracy ◽

Tissue Transglutaminase ◽

Iga Deficiency ◽

Selective Iga Deficiency ◽

Antibody Assays

Download Full-text

Cardiomyopathy Associated with Celiac Disease in Childhood

Case Reports in Gastrointestinal Medicine ◽

10.1155/2012/170760 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Aleksandra Boskovic ◽

Ivana Kitic ◽

Dragan Prokic ◽

Ivica Stankovic

Keyword(s):

Diabetes Mellitus ◽

Small Intestine ◽

Celiac Disease ◽

Iron Deficiency ◽

Dermatitis Herpetiformis ◽

Iga Deficiency ◽

Deficiency Anemia ◽

Thyroid Disorders ◽

Connective Tissue Disorders ◽

Selective Iga Deficiency

Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy.

Download Full-text