Immune System Diseases

22q11.2 deletion syndrome
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
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
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
Familiar chronic mucocutaneous candidiasis - Not a rare disease
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
Short-limb skeletal dysplasia with severe combined immunodeficiency
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