Short-limb skeletal dysplasia with severe combined immunodeficiency (Q97566): Difference between revisions

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+CID11:ID_469016488
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+dki-india-ID_469016488
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+https://pauloleads.com.br/cases-publicos/
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+August 2026Timestamp +2026-08-15T00:00:00Z
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Latest revision as of 13:41, 16 August 2026

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.

Language	Label	Description	Also known as
default for all languages	ID_469016488
English	Short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.