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1.

Autoimmune state

Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES. [from MeSH]

MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
2.

IPEX and IPEX-Like

MedGen UID:
760119
Concept ID:
CN181674
Disease or Syndrome
3.

Autoimmunity

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

MedGen UID:
505423
Concept ID:
CN002679
Finding
4.

Insulin-dependent diabetes mellitus secretory diarrhea syndrome

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, eczematous dermatitis, and endocrinopathy (most commonly insulin-dependent diabetes mellitus). Most children have other autoimmune phenomena including Coombs-positive anemia, autoimmune thrombocytopenia, autoimmune neutropenia, and tubular nephropathy. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements or sepsis; a few with a milder phenotype have survived into the second or third decade of life. [from GeneReviews]

MedGen UID:
83339
Concept ID:
C0342288
Disease or Syndrome
5.

Autoimmune disease

Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.  [from MedlinePlus]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
6.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
8.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
9.

Polyendocrinopathy

MedGen UID:
833426
Concept ID:
CN228912
Finding
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

Graft-versus-host disease, susceptibility to

Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005). At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see 604936), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006). [from OMIM]

MedGen UID:
482307
Concept ID:
C3280677
Finding
12.

Immune dysregulation

MedGen UID:
335001
Concept ID:
C1844666
Finding
13.

Suffering

State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional. [from SNOMEDCT_US]

MedGen UID:
151916
Concept ID:
C0683278
Mental or Behavioral Dysfunction
14.

Mediator brand of benfluorex hydrochloride

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
15.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
16.

Graft versus host disease

The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION. [from MeSH]

MedGen UID:
9082
Concept ID:
C0018133
Disease or Syndrome
17.

Abnormality of the intestine

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [from HPO]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
18.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Autoimmune polyendocrinopathy

an autoimmune diseases affecting multiple endocrine organs [from CHV]

MedGen UID:
39042
Concept ID:
C0085409
Disease or Syndrome
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