domingo, 27 de enero de 2019

Immune System Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Immune System Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Immune System Diseases

22q11.2 deletion syndrome 
Achondroplasia and severe combined immunodeficiency 
Adenosine Deaminase 2 deficiency 
Adenosine deaminase deficiency 
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 
Agammaglobulinemia, non-Bruton type 
Aicardi-Goutieres syndrome 
Aicardi-Goutieres syndrome type 5 
Allergic bronchopulmonary aspergillosis 
Alopecia areata - Not a rare disease 
Alopecia totalis - Not a rare disease 
Alopecia universalis 
Amyloidosis AA 
Amyloidosis familial visceral 
Ataxia telangiectasia 
Autoimmune lymphoproliferative syndrome 
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 
Autoimmune polyglandular syndrome type 1 
Autosomal dominant hyper IgE syndrome 
Autosomal recessive early-onset inflammatory bowel disease 
Autosomal recessive hyper IgE syndrome 
Bare lymphocyte syndrome 2 
Barth syndrome 
Blau syndrome 
Bloom syndrome 
Bronchiolitis obliterans 
C1q deficiency 
Candidiasis familial chronic mucocutaneous, autosomal recessive 
Cartilage-hair hypoplasia 
CHARGE syndrome 
Chediak-Higashi syndrome 
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature 
Chronic graft versus host disease 
Chronic granulomatous disease 
Chronic mucocutaneous candidiasis (CMC) - Not a rare disease 
Cohen syndrome 
Combined immunodeficiency with skin granulomas 
Common variable immunodeficiency 
Complement component 2 deficiency 
Complement component 8 deficiency type 1 
Complement component 8 deficiency type 2 
Congenital pulmonary alveolar proteinosis 
Cutaneous mastocytoma 
Cyclic neutropenia 
Deficiency of interleukin-1 receptor antagonist 
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Epidermodysplasia verruciformis 
Familial amyloidosis, Finnish type 
Familial cold autoinflammatory syndrome 
Familial Mediterranean fever 
Familial mixed cryoglobulinemia 
Felty's syndrome 
Glycogen storage disease type 1B 
Griscelli syndrome type 2 
Hashimoto encephalopathy 
Hashimoto's syndrome - Not a rare disease 
Hemophagocytic lymphohistiocytosis 
Hennekam syndrome 
Hepatic venoocclusive disease with immunodeficiency 
Hereditary folate malabsorption 
Hermansky Pudlak syndrome 2 
Herpes simplex encephalitis 
Hoyeraal Hreidarsson syndrome 
Hyper IgE syndrome 
Hyper-IgD syndrome 
ICF syndrome 
Idiopathic acute eosinophilic pneumonia 
Idiopathic CD4 positive T-lymphocytopenia 
IL12RB1 deficiency 
Immune defect due to absence of thymus 
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 
Immunodeficiency with hyper IgM type 1 
Immunodeficiency with hyper IgM type 2 
Immunodeficiency with hyper IgM type 3 
Immunodeficiency with hyper IgM type 4 
Immunodeficiency with hyper IgM type 5 
Immunodeficiency with thymoma 
Immunodeficiency without anhidrotic ectodermal dysplasia 
Immunodysregulation, polyendocrinopathy and enteropathy X-linked 
Immunoglobulin A deficiency 2 
Intestinal atresia multiple 
IRAK-4 deficiency 
Isolated growth hormone deficiency type 3 
Kawasaki disease 
Large granular lymphocyte leukemia 
Leukocyte adhesion deficiency type 1 
LRBA deficiency 
Lupus - Not a rare disease 
Lymphocytic hypophysitis 
Majeed syndrome 
Melkersson-Rosenthal syndrome 
MHC class 1 deficiency 
Muckle-Wells syndrome 
Multifocal fibrosclerosis 
Multiple sclerosis - Not a rare disease 
MYD88 deficiency 
Neonatal Onset Multisystem Inflammatory disease 
Neonatal systemic lupus erythematosus 
Netherton syndrome 
Neutrophil-specific granule deficiency 
Nijmegen breakage syndrome 
Omenn syndrome 
Osteopetrosis autosomal recessive 7 
Palindromic rheumatism 
Papillon Lefevre syndrome 
Partial androgen insensitivity syndrome 
PASLI disease 
Pearson syndrome 
Pediatric multiple sclerosis 
Periodic fever, aphthous stomatitis, pharyngitis and adenitis 
Poikiloderma with neutropenia 
Pruritic urticarial papules plaques of pregnancy 
Purine nucleoside phosphorylase deficiency 
Pyogenic arthritis, pyoderma gangrenosum and acne 
Relapsing polychondritis 
Reticular dysgenesis 
Sarcoidosis - Not a rare disease 
Say Barber Miller syndrome 
Schimke immunoosseous dysplasia 
Schnitzler syndrome 
Selective IgA deficiency - Not a rare disease 
Selective IgM deficiency 
Severe combined immunodeficiency 
Severe combined immunodeficiency due to complete RAG1/2 deficiency 
Severe combined immunodeficiency with sensitivity to ionizing radiation 
Severe combined immunodeficiency, atypical 
Severe congenital neutropenia autosomal recessive 3 
Severe congenital neutropenia X-linked 
Shwachman-Diamond syndrome 
Singleton-Merten syndrome 
Specific antibody deficiency 
Stevens-Johnson syndrome/toxic epidermal necrolysis 
T-cell immunodeficiency, congenital alopecia and nail dystrophy 
TARP syndrome 
Trichohepatoenteric syndrome 
Tumor necrosis factor receptor-associated periodic syndrome 
Twin to twin transfusion syndrome 
Vici syndrome 
WHIM syndrome 
Wiskott Aldrich syndrome 
Woods Black Norbury syndrome 
X-linked agammaglobulinemia 
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 
X-linked lymphoproliferative syndrome 
X-linked lymphoproliferative syndrome 1 
X-linked lymphoproliferative syndrome 2 
X-linked severe combined immunodeficiency 
ZAP-70 deficiency 

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