Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Congenital corneal dystrophy |
OMIM:610048 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:247630 |
Immunodeficiency, Common Variable, 3 |
|
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... |
OMIM:613493 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... |
OMIM:604393 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent pneumonia |
OMIM:613500 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98848 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Recurrent skin infections |
OMIM:617744 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... |
OMIM:616452 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... |
OMIM:615767 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... |
OMIM:618982 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia |
OMIM:269840 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural killer cell activ... |
OMIM:300400 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... |
ORPHA:277 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia |
OMIM:312863 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:618969 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased c... |
OMIM:607594 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Agammaglobulinemia, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... |
ORPHA:70593 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Increased circu... |
OMIM:619632 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... |
OMIM:619281 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:859 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... |
OMIM:240500 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Ker... |
OMIM:229200 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... |
ORPHA:217390 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis |
OMIM:616098 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract |
ORPHA:65 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level |
OMIM:618523 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... |
OMIM:618394 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... |
OMIM:619220 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreased circulating antibody level, R... |
OMIM:601495 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis |
OMIM:193670 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Otiti... |
ORPHA:275 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis |
OMIM:241600 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... |
ORPHA:67043 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis |
OMIM:178610 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Brittle Cornea Syndrome |
|
Decreased corneal thickness, Mitral valve prolapse, Corneal erosion, Corneal scarring, Keratoglob... |
ORPHA:90354 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circula... |
OMIM:308230 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Immunodeficiency 92 |
|
Cholangitis, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Esophag... |
OMIM:619652 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... |
OMIM:615577 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... |
OMIM:618108 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Immunodeficiency 64 |
|
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... |
OMIM:618534 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma |
OMIM:256500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:2643 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... |
ORPHA:169154 |
Immunodeficiency 27A |
|
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Increased inflammatory resp... |
OMIM:209950 |
Arthrogryposis, Distal, Type 5 |
|
Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus |
OMIM:108145 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... |
OMIM:606367 |
Mastocytosis |
|
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly |
ORPHA:98292 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:251190 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... |
ORPHA:634 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Eczema |
OMIM:313900 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... |
ORPHA:167 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating ... |
ORPHA:276 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis |
OMIM:304790 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Elevated circulating C-reactive protein conce... |
ORPHA:2902 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Pneumonia, Decreased circulating IgA level, Increased circulating IgE level, Absent sp... |
OMIM:102700 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... |
OMIM:614700 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... |
OMIM:602668 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... |
ORPHA:35078 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, Decreased circul... |
ORPHA:331206 |
Aspergillosis |
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Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... |
ORPHA:1163 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration, Keratoconus, Patent foramen ovale |
ORPHA:542306 |
Pgm3-Cdg |
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Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgA level, Ch... |
ORPHA:443811 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Decreased specific pneumococcal antibody... |
ORPHA:183675 |
Pyoderma Gangrenosum |
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Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Decreased corneal thickness, Abnormality of the optic disc, Congenital stationary night blindness |
ORPHA:293967 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... |
OMIM:242860 |
Immunodeficiency 23 |
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Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... |
OMIM:615816 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash |
ORPHA:2314 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Igg4-Related Kidney Disease |
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Tubulointerstitial nephritis, Elevated circulating C-reactive protein concentration, Increased ci... |
ORPHA:449395 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Lichtenstein Syndrome |
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Decreased circulating IgA level |
OMIM:246550 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... |
OMIM:613470 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level |
OMIM:215250 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Decreased circulating antibody level, Bone marrow hypocellularity, Colitis |
OMIM:615190 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus |
OMIM:609438 |
Autoimmune Lymphoproliferative Syndrome |
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Glomerulonephritis, Increased circulating IgA level, Decreased circulating IgG level, Hepatitis, ... |
ORPHA:3261 |
Selective Igm Deficiency |
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Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... |
ORPHA:331235 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... |
ORPHA:449432 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:275350 |
Microtriplication 11Q24.1 |
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Keratoconus |
ORPHA:289522 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Autoimmune Hepatitis |
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Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased circu... |
ORPHA:2137 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... |
OMIM:618213 |
Optic Atrophy-Intellectual Disability Syndrome |
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Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Keratoconus |
ORPHA:401777 |
Boutonneuse Fever |
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Increased circulating IgM level, Increased circulating IgG level, Maculopapular exanthema, Skin rash |
ORPHA:83313 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... |
OMIM:603909 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
ORPHA:90362 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... |
OMIM:615934 |
Bloom Syndrome |
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Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Malar rash, Dec... |
OMIM:210900 |
Wiskott-Aldrich Syndrome |
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Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... |
OMIM:301000 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Conjunctivitis |
OMIM:242150 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... |
OMIM:208900 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific antibody response to... |
ORPHA:221139 |
Riddle Syndrome |
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Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Costello Syndrome |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis,... |
ORPHA:3071 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Lead Poisoning |
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Increased circulating IgE level, Tubulointerstitial nephritis, Abnormality of humoral immunity, S... |
ORPHA:330015 |
Chediak-Higashi Syndrome |
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Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Tempi Syndrome |
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Increased circulating IgG level |
ORPHA:284227 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... |
OMIM:618935 |
Rasmussen Subacute Encephalitis |
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Decreased circulating total IgA |
ORPHA:1929 |
Alagille Syndrome |
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Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Atrial septal defect, Ke... |
ORPHA:52 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Warburg-Cinotti Syndrome |
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Decreased corneal thickness, Symblepharon, Retinal dystrophy, Limbal stem cell deficiency, Cornea... |
OMIM:618175 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level |
OMIM:616638 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
Secondary Intestinal Lymphangiectasia |
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Constrictive pericarditis, Decreased prealbumin level, Decreased circulating IgA level, Reduced c... |
ORPHA:90363 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Decreased circulating IgA level, Elevated alpha-fetoprotein |
OMIM:208910 |
Lacrimoauriculodentodigital Syndrome |
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Keratoconjunctivitis sicca, Decreased corneal sensation, Recurrent corneal erosions, Limbal stem ... |
ORPHA:2363 |
Trichinellosis |
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Increased circulating IgE level, Skin rash, Conjunctivitis |
ORPHA:863 |
Immunodeficiency 82 With Systemic Inflammation |
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Hypoalbuminemia, Decreased circulating total IgA, Elevated circulating C-reactive protein concent... |
OMIM:619381 |
Angelman Syndrome |
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Optic atrophy, Optic disc pallor, Iris hypopigmentation, Astigmatism, Keratoconus |
ORPHA:72 |
Nail-Patella Syndrome |
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Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus |
OMIM:161200 |
Gapo Syndrome |
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Optic atrophy, Keratoconus |
ORPHA:2067 |
Arterial Tortuosity Syndrome |
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Ventricular hypertrophy, Aortic valve stenosis, Keratoconus |
OMIM:208050 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Decreased circulating IgA level |
ORPHA:457485 |
Bloom Syndrome |
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Pneumonia, Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, Decreased... |
ORPHA:125 |
Mogs-Cdg |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Decreased circulating IgA level, Hashimoto thyroiditis, Hepatitis |
OMIM:613385 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... |
ORPHA:562639 |
Celiac Disease, Susceptibility To, 1 |
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Eczema, Stomatitis, Decreased circulating IgA level, Thyroiditis, Recurrent aphthous stomatitis |
OMIM:212750 |
Arterial Tortuosity Syndrome |
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Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Keratoglobus, Abnormal myocardi... |
ORPHA:3342 |
Immunodeficiency 47 |
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Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgA level, Decreased circulating IgG level, Hypoalbuminemia |
OMIM:212065 |
Brucellosis |
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Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hip osteoarthritis, ... |
ORPHA:1304 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Decreased circulating IgA level, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Multiple Myeloma |
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Increased circulating IgA level, Hyperproteinemia, Decreased circulating antibody level, Increase... |
ORPHA:29073 |
Gapo Syndrome |
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Optic atrophy, Keratoconus |
OMIM:230740 |
Dubowitz Syndrome |
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Decreased circulating IgA level, Otitis media, Decreased circulating IgG level, Eczema |
OMIM:223370 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Microcornea, Retinal detachment, Keratoconus |
OMIM:225400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess |
OMIM:306400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Simpson-Golabi-Behmel Syndrome |
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Increased circulating IgE level |
ORPHA:373 |
Monosomy 18Q |
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Decreased circulating IgA level |
ORPHA:1600 |
Leukocyte Adhesion Deficiency |
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Leukocytosis, Thrombocytosis, Polycythemia, Bone marrow hypocellularity, Acute myeloid leukemia, ... |
ORPHA:2968 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Seborrheic dermatitis, Eczema, Superficial dermal perivascular inflammatory infiltrate, Decreased... |
ORPHA:83617 |
Viss Syndrome |
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Atopic dermatitis, Eczema, Decreased circulating IgA level, Increased circulating IgG level, Chro... |
OMIM:619472 |
Ehlers-Danlos Syndrome, Vascular Type |
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Mitral valve prolapse, Keratoconus |
OMIM:130050 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconjunctivitis sicca, Keratoconus |
ORPHA:285 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal pupil morphology, Abnormal heart valve morphology, Mitral valve prolapse, Keratoconus |
ORPHA:286 |