Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 37

1.

Severe combined immunodeficiency disease

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID). [from MeSH]

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
2.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
3.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
4.

Severe combined immunodeficiency

Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [from HPO]

MedGen UID:
505637
Concept ID:
CN003925
Finding
5.

Immunodeficiency due to defect in cd3-zeta

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
6.

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
7.

Combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. [from NCI]

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
8.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
9.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
10.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from MeSH]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
11.

Pneumonitis

An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [from NCI]

MedGen UID:
811420
Concept ID:
C3714636
Disease or Syndrome
12.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
13.

RID

MedGen UID:
35613
Concept ID:
C0073361
Organic Chemical; Pharmacologic Substance
14.

Acute graft versus host disease

MedGen UID:
831017
Concept ID:
CN207447
Disease or Syndrome
15.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
16.

Offered

MedGen UID:
731829
Concept ID:
C1444648
Finding
17.

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 GTR]

MedGen UID:
482307
Concept ID:
C3280677
Finding
18.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from GTR]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
19.

Microphthalmia syndromic 9

Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GTR]

MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
20.

Acute graft-versus-host disease

A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. [from NCI]

MedGen UID:
208987
Concept ID:
C0856825
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center