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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.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
3.

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
4.

Immunodeficiency due to defect in cd3-zeta

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
5.

X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by a hemizygous pathogenic variant in IL2RG. In typical X-SCID lack of IL2RG function results in near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months with failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections. Males with atypical X-SCID may have immune dysregulation and autoimmunity associated with rashes, gastrointestinal malabsorption, and short stature. [from GTR]

MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome
6.

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
7.

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
8.

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
9.

Infection

The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce. [from NCI]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
10.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
11.

Lymphopenia

A reduced number of lymphocytes in the blood. [from HPO]

MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
12.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
13.

Lymphopenia

An abnormally small number of lymphocytes in the circulating blood. [from NCI]

MedGen UID:
810690
Concept ID:
C0853986
Finding
14.

Consideration

Careful thought or deliberation. [from NCI]

MedGen UID:
810608
Concept ID:
C0518609
Finding
15.

Difficult

A response indicating that something is or was difficult. [from NCI]

MedGen UID:
568202
Concept ID:
C0332218
Finding
16.

Mild

Gentle or temperate in nature or degree. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
Qualitative Concept
17.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
18.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
19.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
20.

Immune

Protected against infectious disease by either specific or non-specific mechanisms.(On-line Medical Dictionary) [from NCI]

MedGen UID:
98553
Concept ID:
C0439662
Finding
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