Background: Enteropathy-associated T-cell lymphoma (EATL) is a rare and aggressive type of extranodal T-cell lymphoma (TCL) arising in the gastrointestinal (GI) tract and represents 5– 8% of all T-cell non-Hodgkin lymphomas (NHL) and 10– 25% of primary intestinal lymphomas. Case presentation: We reported a 78-year-old woman presenting with severe hypocalcemia. Investigations confirmed vitamin D and iron deficiency as well as hypoalbuminemia. Celiac disease was suspected and confirmed, but despite intravenous calcium and magnesium supplementation and a gluten-free diet, normal electrolyte levels were never reached. Intestinal perforation was the clue to the diagnosis of enteropathyassociated T-cell lymphoma (EATL). Conclusion: Hypocalcemia can result from multiple conditions. In patients not responding to adequate supplementation, further investigations should be performed to diagnose the underlying condition.

Introduction: Collagenous Enteritis (CE) is a recently described and rare pathological diagnosis characterized by intestinal villus blunting, intraepithelial lymphocytic infiltrate, and expanded subepithelial collagenous bands. Case Presentation: We discuss the case of a 40-year-old woman with prior history of cervical cancer who presented to our center with a two-year history of progressive unintentional weight loss (32 kg), chronic diarrhea, and severe malnutrition. During this time, she was labeled as having celiac disease but despite documented adherence to a prolonged gluten-free diet, she continued to experience diarrhea, fatigue, and weight loss. After extensive workup, pathology from a follow-up push enteroscopy revealed the presence of intestinal intraepithelial lymphocytosis and severe villus blunting in addition to a patchy enlarged subepithelial collagen layer characteristic of CE extending from the duodenum to the terminal ileum. Conclusion: With a better understanding of CE and its response to various treatment modalities, a more favorable outlook has replaced its once grim prognosis. Discontinuation of offending medications and initiation of corticosteroids remain the mainstay of therapy, often with favorable outcomes. In our case, treatment with corticosteroids and maintenance on a strict gluten-free diet resulted in significantly reduced stool output and gradual weight gain.

Enteropathy is one of the rare manifestations of common variable immunodeficiency (CVID) as a predominant antibody deficiency. Proper diagnosis of this phenotype in CVID cases is difficult and may result in inaccurate assessment or incorrect management. Further, this misdiagnosis is more probable when noninfectious diarrhea is the only manifestation of CVID. We present herein a case with such an abstruse condition who was misdiagnosed as a celiac disease leading to delayed diagnosis of her primary immunodeficiency disease. We also offer a review on enteropathy manifestation in CVID patients.

A 62-year-old woman complaining of severe malabsorption was diagnosed with celiac disease based on the findings of flat, small intestinal mucosa and HLA-DQ2 positivity, although celiac serology was negative. This diagnosis was questioned due to the lack of clinical and histological improvement after a long period of strict gluten-free diet. The detection of enterocyte autoantibodies guided to the correct diagnosis of autoimmune enteropathy, leading to a complete recovery of the patient following an appropriate immunosuppressive treatment. Autoimmune enteropathy should be considered in the differential diagnosis of malabsorption with severe villous atrophy, including those cases with negative celiac-related serology.

Aim: To analyze the development of gliadin-specific immune responses in children with a genetic risk for CD and to determine whether these could be detected before the clinical onset of the disease by using immunological tests. Background: Clinical manifestations of celiac disease (CD) in the first year of life is uncommon, which is due to the suboptimal sensitivity of tissue transglutaminase IgA antibodies (tTG-IgA) at this age and other possible causes of malabsorption in infants. The development of Deamidate gliadin peptide-specific antibodies (in particular DGP-IgG) in young children was poorly considered in the CD diagnosis. Methods: We conducted a retrospective cross-sectional study on children between one month and forty-eight months of life, which performed in our health center from 2016 to 2018. Three hundred and fifty children were selected according to strict inclusion criteria: positive for HLA-DQA1 and DQB1 alleles, positive anti tTG-IgA/IgG and/or positive DGP-IgG/IgA. Eighty-two children were selected and divided into two different groups of patients: Group one (forty newborns under twenty-four months of life) and Group two (children from twenty-five months to 48 months of life). Results: Anti-DGP-IgG antibodies precede anti tTG-IgA seroconversion in children under two years in 80% of cases. Anti-DGP-IgG positive patients had milder symptomatic forms of CD than anti tTG-IgA positive children, characterized by gastrointestinal symptoms in the presence of normal growth, normal serum iron, and low MCH level. At tTG-IgA seroconversion, children present gastrointestinal clinical forms associated with impaired growth. The combined use of tTG-IgA and DGP-IgG antibodies upgrade the diagnostic sensitivity from 50% to 92%. Conclusion: Anti-DGP-IgG antibodies precede tTG-IgA seroconversion in newborns and identified two distinct clinical phenotypes. At this point, if you wanted to test your newborn patients for CD serology, how would you proceed?

Background: Nowadays, the attention is more set on the complications of the Fontan surgery such as protein-losing enteropathy (PLE). Determining the frequency rate and the contributing factors of the Fontan surgery complications like PLE would confer optimized preventive approaches, reduced rates of adverse effects, and improved prognosis and survival. 17 This cross-sectional study aimed to determine the prevalence and associated factors of PLE in a referral heart center. Methods: The present cross-sectional analysis was performed on 73 patients using history taking, careful clinical examinations, laboratory tests (eg, fecal alpha-1-antitrypsin, complete cell blood count, chemistry, and venous blood gas), and echocardiographic and angiographic evaluations. Results: In our study, the prevalence of PLE was 4 (5. 47%) cases. The associated factors were edema, diarrhea, abdominal pain, ascites, and hypoalbuminemia. The echocardiographic and angiographic findings revealed that the left ventricular ejection fraction was significantly reduced in our patients with PLE. Conclusions: In light of our results, we conclude that in any post-Fontan surgery patient exhibiting clinical manifestations such as edema, diarrhea, abdominal pain, or ascites, screening for fecal alpha-1-antitrypsin can be helpful for the early detection of PLE.

Aim: The aim of this study was to explore the aetiology of severe duodenal mucosal abnormality in consecutive patients who underwent gastroscopy and duodenal biopsy over the past 10 years. Background: A range of differential diagnoses have been reported for severe duodenal architectural distortion. Methods: Clinical and laboratory data of all the patients with severe duodenal architectural distortion diagnosed at MidCentral District Health Board (DHB), New Zealand were collected and statistically analysed. Ninety-five percent confidence intervals (CI) are shown. Results: Between September 2009 and April 2019, 229 patients were diagnosed with severe enteropathy. The median patient age was 41 years (range 6-83 years). Two hundred and twenty-four of these patients (97. 8%, 95. 0-99. 3%) were diagnosed with coeliac disease (CeD), with one of these patients having gluten induced T-cell lymphoma. From the remaining five patients, one had a diagnosis of tropical sprue and four did not have a clear aetiology. There were 180 patients from 191 (94. 2%, 89. 9-97. 1%) with at least one positive coeliac marker, all with a diagnosis of CeD. Eleven patients (5. 8% of 191, 2. 9-10. 1%) had negative markers for both tissue transglutaminase IgA (tTG-IgA) and IgA-endomysial antibodies (EMA-IgA) with six having a diagnosis of seronegative CeD. Conclusion: Although the spectrum of histological changes in CeD may range from normal to a flat mucosa, severe duodenal architectural distortion seems to occur mainly in CeD. Idiopathic enteropathy was recorded as the second but by far less frequent presentation of severe enteropathy. This study highlights that infection and other aetiologies are rarely implicated in severe enteropathy, with one case (0. 4%) of refractory CeD/T-cell lymphoma.

Biallelic lipopolysaccharide-responsive and beige-like anchor (LRBA) mutations could lead to an immune dysregulation disorder, labeled as LRBA deficiency. A wide spectrum of clinical manifesta tion was shown to be associated with recurrent infections, enteropathy, hypogammaglobulinemia, and autoimmune complications. Notably, LRBA interacts with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) by its recycling to the T-cell surface. Accordingly, LRBA deficiency abolishes CTLA4 protein expression. In this study, we presented a case with a homozygous mutation in the LRBA gene as well as a normal level of CTLA4 protein. In this regard, the immunologist assays of this patient revealed low immunoglobulin levels, CD4+ helper T cells, and CD19+ B cells.