Immunodeficiency Type 23
(immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome), and nonimmune abnormalities (developmental delay and abnormal skin in patients with prolidase[mafiadoc.com]
Hemorrhagic Telangiectasia, Non-CF Bronchiectasis, Eosinophilic Lung Diseases, Benign Metastasizing Leiomyomata, and more![books.google.com]
[…] hyper-IgE syndrome, dedicator of cytokinesis 8 [DOCK8] deficiency, Omenn syndrome, Wiskott-Aldrich syndrome, and adenosine deaminase–deficient severe combined immunodeficiency), autoimmunity[mafiadoc.com]
Anemia
Here we will specifically focus on the hepatic injury and CD. " [Show abstract] [Hide abstract] ABSTRACT: Celiac disease (CD) is the most common autoimmune enteropathy.[web.archive.org]
Oral iron is considered front line therapy except for conditions such as gastric bypass, heavy uterine bleeding, inflammatory bowel disease, and hereditary hemorrhagic telangiectasia[dx.doi.org]
[…] uremic syndrome, drug induced hemolysis, red cell defects such as sickle cell anemia, enteropathies, thalassemia, etc.[cancertherapyadvisor.com]
Dilated Cardiomyopathy Type 2B
1 Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 2 Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 1 Immunoglobulin[preventiongenetics.com]
Hemorrhagic Telangiectasia (HHT) Vascular Malformation Syndromes —see RASA1-Related Disorders Vascular Malformation Syndromes 2009337 Hereditary Hemorrhagic Telangiectasia[aruplab.com]
hemorrhagic telangiectasia syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile retinoschisis Kallmann syndrome 2 Kallmann syndrome 5 Kartagener[pentacorelab.hu]
Celiac Disease with Diffuse Intestinal Ulceration
Corazza GR, Biagi F, Volta U, Andreani ML, De Franceschi L, et al. (1997) Autoimmune enteropathy and villous atrophy in adults. Lancet 350: 106–109.[journals.plos.org]
Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology. 1986 Nov. 91(5):1079-83. [Medline].[emedicine.medscape.com]
enteropathy – a condition where eosinophils build up in the gastrointestinal tract and blood vessels, leading to polyp formation, necrosis, inflammation and ulcers. [3] It[en.wikipedia.org]
Celiac Disease
Celiac disease is an autoimmune enteropathy caused by gluten in genetically predisposed individuals.[ncbi.nlm.nih.gov]
Patients with hereditary hemorrhagic telangiectasia with unexplained iron malabsorption should also be screened for CD[ 84 ].[doi.org]
Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion.[ncbi.nlm.nih.gov]
Familial Isolated Dilated Cardiomyopathy
enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune enteropathy type 2 Autoimmune enteropathy type 3 Autoinflammatory syndrome of childhood[se-atlas.de]
hemorrhagic telangiectasia Hereditary mixed polyposis syndrome Hirschsprung disease His bundle tachycardia Histiocytoid cardiomyopathy Holt-Oram syndrome Hyperplastic polyposis[se-atlas.de]
[…] ventricular cardiomyopathy Atresia of small intestine Atrial septal defect-atrioventricular conduction defects syndrome Atrial standstill Attenuated familial adenomatous polyposis Autoimmune[se-atlas.de]
Liver Disease
These transient autoimmune phenomena and gut-liver axis perturbations may have played a role in transient SDS hepatopathy and enteropathy.[ncbi.nlm.nih.gov]
A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is described.[ncbi.nlm.nih.gov]
We report a case of a 62-year-old woman who received a liver transplant 19 years previously for end-stage liver disease due to hereditary hemorrhagic telangiectasia and fibropolycystic[ncbi.nlm.nih.gov]
Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome
1 Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 2 Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 1 Immunoglobulin[preventiongenetics.com]
hemorrhagic telangiectasia syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile retinoschisis Kallmann syndrome 2 Kallmann syndrome 5 Kartagener[pentacorelab.hu]
hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal SMARCAL1 Schimke immunoosseous[genda.com.ar]
Laron Syndrome with Immunodeficiency
Infection Syndrome, X-Linked Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy Iddm-Secretory Diarrhea Syndrome Immunodeficiency, Polyendocrinopathy,[ukgtn.nhs.uk]
hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome[en.wikipedia.org]
hemorrhagic telangiectasia [PATH: hsa04350 ] H00534 Cerebral cavernous malformation H01482 Infantile hemangioma [PATH: hsa04370 ] H01875 Infantile hepatic hemangioma H00536[genome.jp]
Hypogammaglobulinemia
enteropathy (AIE) in common variable immunodeficiency (CVID).[clinicaltrialsregister.eu]
hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome[en.wikipedia.org]
Non-infectious disease-related clinical phenotypes (autoimmune cytopenia, polyclonal lymphocytic proliferation and persistent unexplained enteropathy) were exclusively observed[haematologica.org]