Short-limb skeletal dysplasia with severe combined immunodeficiency
| Short-limb skeletal dysplasia with severe combined immunodeficiency | |
|---|---|
| Other names | Achondroplasia-SCID syndrome |
Genetic mutation | |
| Prevention | None |
| Prognosis | Poor |
| Frequency | 11 cases reported in medical literature |
| Deaths | Out of the 11 cases reported in OMIM, 4 seem to have died. |
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare
thrive, chronic diarrhea, and a notable absence of T and B lymphocytes.[1][2][3] Around 11 cases have been described in medical literature.[4][5][6][7][8]
References
- ^ "Short-limb skeletal dysplasia with severe combined immunodeficiency — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-05.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Short limb skeletal dysplasia with severe combined immunodeficiency". www.orpha.net. Retrieved 2022-07-05.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Short-limb skeletal dysplasia with severe combined immunodeficiency (Concept Id: C1860168) - MedGen — NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-05.
- ^ "Entry - 200900 - Short-limb skeletal dysplasia with severe combined immunodeficiency — OMIM". omim.org. Retrieved 2022-07-05.
- PMID 5951879.
- PMID 5809843.
- PMID 5026207.
- PMID 1999827.
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