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 Infantile Neurological Cutaneous Articular syndrome
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 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 lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia
X-linked severe combined immunodeficiency
ZAP-70 deficiency