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

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 
Cherubism 
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 
Cryoglobulinemia 
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 
PGM3-CDG 
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 
SLC35C1-CDG (CDG-IIc) 
Specific antibody deficiency 
Spondyloenchondrodysplasia 
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