Archives: Conditions A-Z

Severe combined immunodeficiency

Profound T-cell (and often B/NK) deficiency presenting with life-threatening infections in infancy; newborn-screened.

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Stargardt disease

Commonest inherited macular dystrophy of juvenile onset.

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Stickler syndrome

Collagenopathy with ocular, auditory, skeletal and orofacial features.

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Systemic sclerosis

Autoimmune connective-tissue disease with fibrosis of skin and internal organs and vasculopathy.

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Takayasu arteritis

Granulomatous large-vessel vasculitis affecting the aorta and branches, mainly in young women.

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Stiff-person syndrome

Rare autoimmune disorder with progressive axial rigidity and painful spasms triggered by stimuli.

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Treacher Collins syndrome

Craniofacial disorder of the first/second branchial arches.

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Thrombotic thrombocytopenic purpura

A thrombotic microangiopathy from ADAMTS13 deficiency; urgent plasma exchange with immunosuppression is the mainstay, with a targeted adjunct.

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