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
• AGS see Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome
• AIRE deficiency see autoimmune polyglandular syndrome, type 1
• ALPS see autoimmune lymphoproliferative syndrome
• Amish brittle hair syndrome see trichothiodystrophy
• 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
• arthritis, juvenile rheumatoid see juvenile idiopathic arthritis
• Arts syndrome
• AS see ankylosing spondylitis
• ataxia-deafness-optic atrophy, lethal see Arts syndrome
• ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome
• ataxia-telangiectasia
• ataxia-telangiectasia variant 1 see Nijmegen breakage syndrome
• ATM see ataxia-telangiectasia
• autoimmune diabetes see type 1 diabetes
• autoimmune lymphoproliferative syndrome
• autoimmune polyglandular syndrome, type 1
• autosomal dominant familial periodic fever see tumor necrosis factor receptor-associated periodic syndrome
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• autosomal recessive chronic granulomatous disease see chronic granulomatous disease
• Bechterew Disease see ankylosing spondylitis
• Benign paroxysmal peritonitis see familial Mediterranean fever
• Berlin breakage syndrome see Nijmegen breakage syndrome
• BIDS syndrome see trichothiodystrophy
• Bloom syndrome
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
• Bruton's agammaglobulinemia see X-linked agammaglobulinemia
• Buckley syndrome see Job syndrome
• C3 inactivator deficiency see complement factor I deficiency
• Canale-Smith syndrome see autoimmune lymphoproliferative syndrome
• cartilage-hair hypoplasia
• CATCH22 see 22q11.2 deletion syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• celiac disease
• CGD see chronic granulomatous disease
• Chediak-Higashi syndrome
• Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
• CHH see cartilage-hair hypoplasia
• chronic granulomatous disease
• 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
• common variable immune deficiency
• complement factor I deficiency
• Congenital agammaglobulinemia see X-linked agammaglobulinemia
• congenital agranulocytosis see severe congenital neutropenia
• congenital neutropenia see severe congenital neutropenia
• congenital telangiectatic erythema see Bloom syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• Cree encephalitis see Aicardi-Goutieres syndrome
• 22q11.2 deletion syndrome
• diabetes mellitus, type 1 see type 1 diabetes
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• Duncan disease see X-linked lymphoproliferative disease
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• encephalopathy with basal ganglia calcification see Aicardi-Goutieres syndrome
• Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
• familial cold autoinflammatory syndrome
• familial fatal Epstein-Barr infection see X-linked lymphoproliferative disease
• familial hemophagocytic lymphohistiocytosis
• familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis see Aicardi-Goutieres 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
• FEL see familial hemophagocytic lymphohistiocytosis
• FHL see familial hemophagocytic lymphohistiocytosis
• FMF see familial Mediterranean fever
• FPF see tumor necrosis factor receptor-associated periodic syndrome
• gluten enteropathy see celiac disease
• granulomatous disease, chronic see chronic granulomatous disease
• Hashimoto-Pritzger disease see Langerhans cell histiocytosis
• hemophagocytic syndrome see familial hemophagocytic lymphohistiocytosis
• hepatic veno-occlusive disease with immunodeficiency
• Hereditary Periodic Fever Syndromes see familial Mediterranean fever
• Hibernian familial fever see tumor necrosis factor receptor-associated periodic syndrome
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HIGM1 see X-linked hyper IgM syndrome
• histiocytosis X see Langerhans cell histiocytosis
• HPLH see familial hemophagocytic lymphohistiocytosis
• hyper IgD syndrome see mevalonate kinase deficiency
• Hyper-IgE Syndrome see Job syndrome
• Hyper-IgM syndrome 1 see X-linked hyper IgM syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• hyperimmunoglobulinemia D see mevalonate kinase deficiency
• Hypogammaglobulinemia see X-linked agammaglobulinemia
• IBIDS see trichothiodystrophy
• IDDM see type 1 diabetes
• IMD2 see Wiskott-Aldrich syndrome
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• immunodeficiency, common variable see common variable immune deficiency
• Immunodeficiency with Hyper-IgM, type 1 see X-linked hyper IgM syndrome
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• infantile genetic agranulocytosis see severe congenital neutropenia
• infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
• insulin-dependent diabetes mellitus see type 1 diabetes
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• IRAK-4 deficiency
• IRAK4 deficiency see IRAK-4 deficiency
• JIA see juvenile idiopathic arthritis
• Job syndrome
• JOD see type 1 diabetes
• JRA see juvenile idiopathic arthritis
• juvenile diabetes see type 1 diabetes
• juvenile idiopathic arthritis
• juvenile-onset diabetes see type 1 diabetes
• Kawasaki disease
• KD see Kawasaki disease
• Kostmann disease see severe congenital neutropenia
• Kostmann's agranulocytosis see severe congenital neutropenia
• Kostmann's syndrome see severe congenital neutropenia
• Langerhans cell histiocytosis
• LCH see Langerhans cell histiocytosis
• Louis-Bar syndrome see ataxia-telangiectasia
• mannose-binding lectin deficiency
• Marie-Struempell Disease see ankylosing spondylitis
• MBL deficiency see mannose-binding lectin deficiency
• MBL2 deficiency see mannose-binding lectin deficiency
• MBP deficiency see mannose-binding lectin deficiency
• 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
• mevalonate kinase deficiency
• mevalonic aciduria see mevalonate kinase deficiency
• mevalonicaciduria see mevalonate kinase deficiency
• Muckle-Wells syndrome
• mucocutaneous lymph node syndrome see Kawasaki disease
• MWS see Muckle-Wells syndrome
• neonatal onset multisystem inflammatory disease
• Nijmegen breakage syndrome
• NOMID see neonatal onset multisystem inflammatory disease
• nucleoside phosphorylase deficiency see purine nucleoside phosphorylase deficiency
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• Periodic Disease see familial Mediterranean fever
• periodic fever, Dutch type see mevalonate kinase deficiency
• Periodic peritonitis see familial Mediterranean fever
• PGA I see autoimmune polyglandular syndrome, type 1
• PIBIDS see trichothiodystrophy
• PNP deficiency see purine nucleoside phosphorylase deficiency
• 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
• primary hemophagocytic hymphohistiocytosis see familial hemophagocytic lymphohistiocytosis
• pseudo-TORCH syndrome see Aicardi-Goutieres syndrome
• pseudotoxoplasmosis syndrome see Aicardi-Goutieres syndrome
• purine nucleoside phosphorylase deficiency
• Purtilo syndrome see X-linked lymphoproliferative 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
• Seemanova syndrome see Nijmegen breakage syndrome
• selective T-cell defect see ZAP70-related severe combined immunodeficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
• severe congenital neutropenia
• severe susceptibility to EBV infection see X-linked lymphoproliferative disease
• severe susceptibility to infectious mononucleosis see X-linked lymphoproliferative disease
• 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
• sprue see celiac disease
• T1D see type 1 diabetes
• telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• TRAPS see tumor necrosis factor receptor-associated periodic syndrome
• trichothiodystrophy
• TTD see trichothiodystrophy
• tumor necrosis factor receptor-associated periodic syndrome
• type 1 diabetes
• 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
• Wiskott syndrome see Wiskott-Aldrich syndrome
• Wolff Periodic Disease see familial Mediterranean fever
• X-linked agammaglobulinemia
• X-linked chronic granulomatous disease see chronic granulomatous disease
• X-linked hyper IgM syndrome
• X-linked lymphoproliferative disease
• X-linked severe combined immunodeficiency
• X-SCID see X-linked severe combined immunodeficiency
• XLA see X-linked agammaglobulinemia
• XLP see X-linked lymphoproliferative disease
• XSCID see X-linked severe combined immunodeficiency
• ZAP70-related severe combined immunodeficiency
• zeta-associated protein 70 deficiency see ZAP70-related severe combined immunodeficiency