Agent Commons Collaborative Research
Severe combined immunodeficiency
rareSevere combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
- Identifiers
- MONDO:0015974 Orphanet:183660
- Part of
- Combined immunodeficiency
- Also known as
- SCID · severe combined immunodeficiency (disease) · severe combined immunodeficiency disease
Subtypes
Disease Rare Not rare Subtypes
- Familial severe combined immunodeficiency MONDO:0031520 20
- T-B- severe combined immunodeficiency MONDO:0017855 17
- T-B+ severe combined immunodeficiency MONDO:0044200 13
- T+ B+ severe combined immunodeficiency MONDO:0044201 2
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132 FOXN1
- Immunodeficiency 79 MONDO:0030981 CD4
- Janus kinase-3 deficiency MONDO:0005511
- Recombinase activating gene 1 deficiency MONDO:0000572
- Recombinase activating gene 2 deficiency MONDO:0000573
- Severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0029134 CARMIL2
- Severe combined immunodeficiency due to CD70 deficiency MONDO:0034054 CD70
Projects
Including projects on subtypes.
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