Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnoses which may be arrived at by examination of peroral small bowel mucosal biopsy specimens are presented. Celiac sprue, unclassified sprue (refractory sprue), infectious gastroenterititis, stasis syndrome and kwashiorkor have a severe mucosal lesion. Other clinical conditions are required to establish the diagnosis in these diseases. A number of diseases have specific diagnostic features. Included are Whipple's disease, abetalipoproteinemia, collagenous sprue, primary intestinal lymphoma, eosinophilic gastroenteritis, giardiasis, coccidiosis, strongyloidiasis, lymphangiectasis and the intestinal immunodeficiency diseases. Mucosal abnormalities may be present in other diseases but the diagnoses are usually made on other criteria than small bowel biopsy. These include vitamin B12 or folic acid deficiency, Crohn's disease, gastrinoma, acrodermatitis enteropathica, amyloidosis, chronic granulomatous disease, lipid storage diseases, histoplasmosis, capillariasis, cytomegalovirus infection, schistosomiasis and macroglobulinemia.
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PMID:Histologic diagnosis of diseases of malabsorption. 51 56

The author describes the morphological substrate and pathogenesis of the most common enteropathies (gluten enteropathy, collagen sprue, Whipple's disease, common variable immunodeficiency), discusses the potentials and limits of morphological methods for differential diagnosis of enteropathies, emphasizes the high informative value of duodenal biopsies that are as good as jejuno-biopsies. He considers it incompetent to use the term "chronic enteritis" which is widely spread in our country. The term stands for nosological diagnosis, making the treatment of patients worse.
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PMID:[Clinical morphology of enteropathies]. 751 23

Because the gastrointestinal tract is the largest lymphoid organ in the body, it is not surprising that patients with immunodeficiency would present with pathological conditions in the intestine. Several studies have documented a high prevalence of inflammatory, malignant, and infectious gastrointestinal (GI) disorders in patients with common variable immunodeficiency or immunoglobulin A (IgA) deficiency. Interestingly, it has become increasingly apparent that antibody deficiency alone does not result in GI disease. Rather, defects in cellular immunity appear to predispose to a sprue-like disorder, pernicious anemia, giardiasis, nodular lymphoid hyperplasia, and even inflammatory bowel disease. In patients with unusual inflammatory GI disorders, measurement of serum immunoglobulins should be obtained.
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PMID:Gastrointestinal manifestations of primary immunodeficiency disorders. 900 Apr 99

Immunodeficient patients can develop malabsorption, mimicking celiac disease clinically and histologically. Such individuals may also occasionally require immunosuppressive therapy for autoimmune disorders. We have identified a patient with common variable immunodeficiency (CVID)-associated sprue complicated by duodenal cytomegalovirus (CMV) infection following corticosteroid and ancillary immunomodulatory therapy. Ganciclovir and a modification of the immunosuppressant regimen improved both clinical symptoms and villous atrophy. To our knowledge, this is original documentation of duodenal CMV infection secondary to immunomodulatory therapy for steroid-refractory CVID-sprue.
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PMID:Multimodal immunosuppressant therapy in steroid-refractory common variable immunodeficiency sprue: a case report complicating cytomegalovirus infection. 1650 46

Selective IgA deficiency is the most common primary immunoglobulin deficiency. The clinical manifestations of selective IgA deficiency, including gastrointestinal (GI) complications, are rare and typically milder than those seen with common variable immunodeficiency or X-linked agammaglobulinemia. We present a rare case of selective IgA deficiency that shows a number of interesting histological features in the GI tract, including diffuse nodular lymphoid hyperplasia involving the entire small and large intestine, celiac disease-like and collagenous sprue-like changes in the small intestine, as well as lymphocytic colitis pattern. However, this patient had no particular GI symptoms suggestive of celiac sprue or microscopic colitis. These findings suggest that the GI tract in patients with selective IgA deficiency can show peculiar histologic changes that mimic celiac disease, collagenous sprue, or lymphocytic colitis, which may be a pattern of injury related to infection or immunoglobulin immunodeficiency-associated autoimmune phenomena.
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PMID:Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency. 1928 27

Hypogammaglobulinemia/common variable immunodeficiency (CVID) may lead to disruption of the gut mucosal immune barrier. Collagenous infiltrative disorders of the intestinal tract (colitis, gastritis, sprue) constitute a relatively new spectrum of gastrointestinal disorders. Our aims were (1) to determine the association between immunoglobulin deficiency state like CVID and collagenous infiltrative disorders of the gut and (2) to study the clinic-pathologic characteristics and treatment outcomes in these patients. A retrospective search was conducted to identify cases with concurrence of these two conditions at an academic center from 2007 to 2013. Four such patients were identified from our database: three with collagenous colitis and one with collagenous gastritis. All patients with collagenous colitis had normal colonic mucosa while the patient with collagenous gastritis had nodular gastric mucosa. Only one patient out of four had decreased plasma cells in the submucosa as expected in low immunoglobulin states. All patients had improvement in their symptoms on immunoglobulin therapy with considerable remission on budesonide. Literature search revealed reporting of four similar patients. In conclusion, (1) the association between collagenous infiltrative disorders of the gut and CVID and its prompt response to immunoglobulins with effective maintenance with budesonide are novel findings. Our study also shows that the presence of plasma cells should not rule out the possibility of CVID. (2) In patients with chronic diarrhea, hypogammaglobulinemia and collagenous colitis/sprue should be considered for the available effective treatments such as immunoglobulins and budesonide.
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PMID:Association between common variable immunodeficiency and collagenous infiltrative disorders of the gastrointestinal tract: A series of four patients. 2705 52

Celiac disease features duodenal intraepithelial lymphocytosis with or without villous atrophy. Lymphocytosis without villous atrophy will be proven to represent celiac disease in 10% to 20% of cases. The differential diagnosis is broad: Helicobacter pylori gastritis, NSAID injury and bacterial overgrowth are considerations. Lymphocytosis with villous atrophy is very likely to be celiac disease, but there are mimics to consider, including collagenous sprue, tropical sprue, drug injury, and common variable immunodeficiency. Histologic clues to a diagnosis other than celiac disease include paucity of plasma cells, excess of neutrophils, granulomas, and relative paucity of intraepithelial lymphocytes.
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PMID:Practical Approach to the Flattened Duodenal Biopsy. 2910 35

A young girl presented to us with recurrent diarrhea along with a history of 5 kg weight loss in one year. On examination, she appeared pale, while her laboratory reports showed a low hemoglobin, mean corpuscular volume (MCV) and serum albumin. Her erythrocyte sedimentation rate (ESR) was slightly raised with her iron profile suggestive of iron deficiency anemia. Viral markers, human immunodeficiency virus (HIV) serology along with thyroid profile were all unremarkable. There was no history of tuberculosis, and purified protein derivative (PPD) skin test was also negative. Computed tomography (CT) abdomen showed thickening of the terminal ileum with multiple enlarged lymph nodes. An esophagogastroduodenoscopy (EGD) along with colonoscopy was done. Multiple biopsies were taken, which were suggestive of sprue along with intestinal spirochetosis. Her tissue transglutaminase (TTG) was negative while deamidated gliadin peptide (DGP) was positive. She was kept on gluten-free diet and started on tablet metronidazole. This case shows that intestinal spirochetosis should be kept in mind in patients belonging to lower socio-economic status, who present with chronic diarrhea symptoms.
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PMID:Intestinal Spirocheteosis in a Patient with Celiac Disease. 3070 Mar 59