A Review of Autoimmune Enteropathy and Its Associated Syndromes

Chen, Charles B.; Tahboub, Farah; Plesec, Thomas; Kay, Marsha; Radhakrishnan, Kadakkal

doi:10.1007/s10620-020-06540-8

Cited by 18 publications

(23 citation statements)

References 84 publications

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“…Autoimmune enteropathy has been described as a component of inborn errors of immunity such as immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) and other disorders with loss of T-cell tolerance, as well as in association with other non-syndromic immune-mediated conditions and as an isolated disorder ( 10 ). Autoimmune enteropathy is a well-recognized complication of GVHD in patients following allogeneic HSCT; however, recipients of autologous transplants can also have auto-GVHD and autoimmune enteropathy ( 8 , 9 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: “Primary Immunodeficiency”—Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab

et al. 2022

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Disorders of immune dysregulation following heart transplantation in children have been reported; however, the management of such disorders remains uncertain and challenging. In this case report, we describe a clinical course of a child with severe autoimmune enteropathy after a heart transplant in infancy and detail a treatment approach with abatacept and alemtuzumab. A 21-month-old girl with a medical history of congenital dilated cardiomyopathy and heart transplantation at 2 months was evaluated for chronic hematochezia. The patient underwent an extensive workup, including endoscopic biopsy which showed crypt apoptosis, similar to that seen with graft-versus-host disease (GVHD). Results of her immune workup were consistent with status post-thymectomy but also demonstrated evidence of immune dysregulation. Specifically, her immune phenotype at diagnosis demonstrated T-cell lymphopenia, restricted TCR repertoire and skewing of T-cell compartment toward memory phenotype, increase in serum soluble ILR2a, and hypergammaglobulinemia. In the absence of response to more standard immune modulation, the patient was treated with CTLA4-Ig (abatacept), followed by a combination of abatacept and a JAK inhibitor and, finally, a combination of abatacept and alemtuzumab. Following therapy with alemtuzumab, the patient achieved remission for the first time in her life. Her clinical course was complicated by a relapse after 6 months which again readily responded to alemtuzumab. Ultimately, despite these remissions, the patient suffered an additional relapse. This case highlights the challenges of neonatal thymectomy and adds new insights into the pathogenesis, diagnosis, and management of severe autoimmune enteropathy in pediatric heart transplant recipients.

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Section: Discussionmentioning

confidence: 99%

Case Report: “Primary Immunodeficiency”—Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab

et al. 2022

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“…Patients with STAT5b mutations present with growth failure and pulmonary disease while STAT1 mutations typically predispose to mucocutaneous candidiasis. Dysmorphic feature, developmental and growth delay and chronic lung disease are typical in ITCH mutation (23).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency

et al. 2021

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Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintestinal immune system dysfunction the diagnosis of PID is straightforward. However, with the advent of next generation sequencing technologies, genetic defects in PID genes have been increasingly recognized even when a single or no extraintestinal signs of immune dysregulation are present. A genetic diagnosis is especially important considering the expanding armamentarium of therapies designed to inhibit specific molecular pathways. We describe a boy with early-onset severe, refractory autoimmune gastritis and biallelic mutations in the LRBA gene causing a premature STOP-codon who was successfully treated with CTLA4-Ig, abatacept, with long term clinical and endoscopic remission. The case underscores the importance to consider a monogenetic defect in early onset autoimmune disorders, since the availability of targeted treatments may significantly improve patient prognosis.

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“…[26][27][28] Another study has shown that autoimmune enteropathies have also been previously discussed to cause carbohydrate malabsorption among pediatric patients and they are usually a group of disorders that affect the GIT in addition to the presence of other related organic comorbidities. 29,30 As previously mentioned that fat malabsorption and intestinal lymphangiectasia can lead to carbohydrate malabsorption and to develop a related manifestations. Inflammatory bowel diseases as Crohn's disease and ulcerative colitis have also been previously reported among studies in the literature review to cause carbohydrate metabolism in pediatric patients diagnosed with secondary.…”

Section: Carbohydrate Malabsorptionmentioning

confidence: 98%

Common malabsorption syndromes in different pediatrics age

Babonji¹,

Asiri

Alamri

et al. 2021

Int J Community Med Public Health

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The process of digestion involve many organs that include the small intestine, pancreas, gall bladder, related blood vessels and lymphatics. The small intestine which constitutes a large surface area of the gastrointestinal tract (GIT). The presence of the villi, absorptive spaces and enzymes directly contribute to the absorption of almost all elements. On the contrary, malabsorption syndromes is a condition that prevent the absorption of certain nutrients and fluids. Our present literature review mainly aimed to discuss the common malabsorption syndromes and their related etiologies in pediatric patients. We have classified our discussion based on the deficient nutrients for easy delivery and based on the specification of the etiology per each nutrient. Many studies have shown that some disease have been previously commonly reported with the development of different malabsorption syndromes such as inflammatory bowel diseases, celiac disease, autoimmune enteropathies and other congenital disorders. Furthermore, patients with malabsorption syndromes usually present with diarrhoea, steatorrhea and other GIT symptoms such as idiopathic pain and flatulence, but there are no specific symptoms associated with any of these syndromes. Efforts should be directed to understand more about the pathophysiology of some disorders, especially the congenital and idiopathic ones in order to achieve a better management and to enhance the prognosis of the affected patients.

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A Review of Autoimmune Enteropathy and Its Associated Syndromes

Cited by 18 publications

References 84 publications

Case Report: “Primary Immunodeficiency”—Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab

Case Report: “Primary Immunodeficiency”—Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab

Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency

Common malabsorption syndromes in different pediatrics age

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