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
• ADA deficiency see adenosine deaminase deficiency
• ADA-SCID see adenosine deaminase deficiency
• adenosine deaminase deficiency
• Agammaglobulinemia see X-linked agammaglobulinemia
• AIRE deficiency see autoimmune polyglandular syndrome, type 1
• Aldrich Syndrome see Wiskott-Aldrich syndrome
• ankylosing spondylitis
• APECED see autoimmune polyglandular syndrome, type 1
• APS type 1 see autoimmune polyglandular syndrome, type 1
• APS1 see autoimmune polyglandular syndrome, type 1
• AS see ankylosing spondylitis
• ataxia-telangiectasia
• ATM see ataxia-telangiectasia
• autoimmune polyglandular syndrome, type 1
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Bechterew Disease see ankylosing spondylitis
• Benign paroxysmal peritonitis see familial Mediterranean fever
• Bloom syndrome
• Bruton's agammaglobulinemia see X-linked agammaglobulinemia
• Buckley syndrome see Job syndrome
• cartilage-hair hypoplasia
• CATCH22 see 22q11.2 deletion syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• Chediak-Higashi syndrome
• Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
• CHH see cartilage-hair hypoplasia
• chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• CHS see Chediak-Higashi syndrome
• CINCA see neonatal onset multisystem inflammatory disease
• cold hypersensitivity see familial cold autoinflammatory syndrome
• Congenital agammaglobulinemia see X-linked agammaglobulinemia
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• 22q11.2 deletion syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• familial cold autoinflammatory syndrome
• familial Mediterranean fever
• familial veno-occlusive disease with immunodeficiency see hepatic veno-occlusive disease with immunodeficiency
• FCAS see familial cold autoinflammatory syndrome
• FCU see familial cold autoinflammatory syndrome
• FMF see familial Mediterranean fever
• hepatic veno-occlusive disease with immunodeficiency
• Hereditary Periodic Fever Syndromes see familial Mediterranean fever
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HIGM1 see X-linked hyper IgM syndrome
• Hyper-IgE Syndrome see Job syndrome
• Hyper-IgM syndrome 1 see X-linked hyper IgM syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• Hypogammaglobulinemia see X-linked agammaglobulinemia
• IMD2 see Wiskott-Aldrich syndrome
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• Immunodeficiency with Hyper-IgM, type 1 see X-linked hyper IgM syndrome
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• Job syndrome
• Louis-Bar syndrome see ataxia-telangiectasia
• Marie-Struempell Disease see ankylosing spondylitis
• McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
• Mediterranean Fever, Familial see familial Mediterranean fever
• MEF see familial Mediterranean fever
• Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
• metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
• Muckle-Wells syndrome
• MWS see Muckle-Wells syndrome
• neonatal onset multisystem inflammatory disease
• NOMID see neonatal onset multisystem inflammatory disease
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• Periodic Disease see familial Mediterranean fever
• Periodic peritonitis see familial Mediterranean fever
• PGA I see autoimmune polyglandular syndrome, type 1
• Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune see autoimmune polyglandular syndrome, type 1
• Polyglandular autoimmune syndrome, type 1 see autoimmune polyglandular syndrome, type 1
• Polyglandular Type I Autoimmune Syndrome see autoimmune polyglandular syndrome, type 1
• Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
• Recurrent polyserositis see familial Mediterranean fever
• Reimann periodic disease see familial Mediterranean fever
• Schimke immuno-osseous dysplasia
• SCID due to ADA deficiency see adenosine deaminase deficiency
• SCIDX1 see X-linked severe combined immunodeficiency
• Sedlackova syndrome see 22q11.2 deletion syndrome
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
• Shprintzen syndrome see 22q11.2 deletion syndrome
• Siegal-Cattan-Mamou disease see familial Mediterranean fever
• SIOD see Schimke immuno-osseous dysplasia
• 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
• UDA syndrome see Muckle-Wells syndrome
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• VCFS see 22q11.2 deletion syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• veno-occlusive disease and immunodeficiency syndrome see hepatic veno-occlusive disease with immunodeficiency
• VODI see hepatic veno-occlusive disease with immunodeficiency
• Wiskott-Aldrich syndrome
• Wolff Periodic Disease see familial Mediterranean fever
• X-linked agammaglobulinemia
• X-linked hyper IgM syndrome
• X-linked severe combined immunodeficiency
• X-SCID see X-linked severe combined immunodeficiency
• XLA see X-linked agammaglobulinemia
• XSCID see X-linked severe combined immunodeficiency