Medic8® Genetic Disorders
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Genetic Diseases & Conditions - Immune system

The immune system identifies and kills invaders such as bacteria and viruses. If genes associated with the immune system don’t work properly, the body may not be able to defend itself against invaders or the immune system may mistakenly kill the body's own cells.

A-T see ataxia-telangiectasia
ankylosing spondylitis
AS - Ankylosing spondylitis see ankylosing spondylitis
ataxia-telangiectasia
ATM see ataxia-telangiectasia
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
Bechterew Disease see ankylosing spondylitis
Benign paroxysmal peritonitis see familial Mediterranean fever
biotinidase deficiency
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
CATCH22 see 22q11.2 deletion syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
22q11.2 deletion syndrome
DiGeorge Syndrome see 22q11.2 deletion syndrome
familial Mediterranean fever
FMF see familial Mediterranean fever
Hereditary Periodic Fever Syndromes see familial Mediterranean fever
Louis-Bar syndrome see ataxia-telangiectasia
Marie-Struempell Disease see ankylosing spondylitis
Mediterranean Fever, Familial see familial Mediterranean fever
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Periodic Disease see familial Mediterranean fever
Periodic peritonitis see familial Mediterranean fever
Recurrent polyserositis see familial Mediterranean fever
Rheumatoid Spondylitis see ankylosing spondylitis
SCIDX1 see X-linked severe combined immunodeficiency
Sedlackova syndrome see 22q11.2 deletion syndrome
Shprintzen syndrome see 22q11.2 deletion syndrome
Spondylarthritis Ankylopoietica see ankylosing spondylitis
Spondylitis ankylopoietica see ankylosing spondylitis
Spondylitis, Ankylosing see ankylosing spondylitis
Spondyloarthritis Ankylopoietica see ankylosing spondylitis
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
Wolff Periodic Disease see familial Mediterranean fever
X-linked severe combined immunodeficiency
X-SCID see X-linked severe combined immunodeficiency
XSCID see X-linked severe combined immunodeficiency



Medic8® Genetic Disorders

Page last modified: September 2006

Source: GHR/NHGRI/NIH


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