U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

Items: 5

1.

Combined immunodeficiency

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. [from HPO]

MedGen UID:
751396
Concept ID:
C2711630
Disease or Syndrome
2.

Inborn error of immunity

Immunodeficiency disease that arises independent of another pathologic process, disease, or injury. [from NCI]

MedGen UID:
585013
Concept ID:
C0398686
Disease or Syndrome
3.

X-linked severe combined immunodeficiency

The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications. [from GeneReviews]

MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome
4.

Severe combined immunodeficiency disease

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. [from HPO]

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
5.

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
Format

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...