C1Q Deficiency |
|
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Decreased s... |
OMIM:613652 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Nephrotic syndrome, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... |
OMIM:614380 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Decreased specific pneumococcal... |
OMIM:613496 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus, Decreased serum complement C8 |
OMIM:613790 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Increased circulating IgG lev... |
OMIM:610163 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thromboc... |
OMIM:619220 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity |
OMIM:216950 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... |
ORPHA:567544 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Nephrotic syndrome, Anticardiolipin IgG antibody positivity... |
OMIM:615559 |
Complement Component C1S Deficiency |
|
Hepatitis, Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Arthritis, Pericar... |
OMIM:152700 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:603909 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Anti-U1 ribonucleoprotein antibody pos... |
OMIM:619375 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthr... |
OMIM:616414 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... |
ORPHA:2137 |
Immunodeficiency 27A |
|
Rheumatoid factor positive, Increased circulating IgG level, Increased inflammatory response, Inc... |
OMIM:209950 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Recurrent urinary tract infections, Increased circulating IgG... |
OMIM:618495 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Abnormality of humoral ... |
ORPHA:277 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... |
ORPHA:91139 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
Immunodeficiency 14A, Autosomal Dominant |
|
Bronchiectasis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level,... |
OMIM:615513 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl... |
OMIM:607665 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:613913 |
Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Myositis, Aut... |
ORPHA:99867 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Arthritis, Hepatitis, Anti-glutamic acid... |
OMIM:304790 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Autoimmunity, Increased circula... |
OMIM:616005 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:608709 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Au... |
ORPHA:449400 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... |
ORPHA:48377 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Sclerosing ... |
ORPHA:562639 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Idiopathic Pulmonary Hemosiderosis |
|
Smooth muscle antibody positivity, Antineutrophil antibody positivity, Rheumatoid factor positive... |
ORPHA:99931 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced delayed hypersensitivity, Increased circulating IgM level, Reduced antigen-specif... |
OMIM:617241 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Rheumatoid factor positive, Uveitis, Bone marrow hypocellularity, Increased circulatin... |
ORPHA:3261 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Arteritis, Macro... |
ORPHA:93126 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... |
ORPHA:449395 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:615577 |
Immunodeficiency 23 |
|
Eczema, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Increased circulati... |
OMIM:615816 |
Complement Factor I Deficiency |
|
Decreased serum complement factor H, Decreased serum complement factor B, Decreased serum complem... |
OMIM:610984 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Systemic lupus erythematosus, Nephrotic syndrome, Deep dermal perivascular inflammatory ... |
ORPHA:49041 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Decreased lymphocyte apoptosis, Autoimmunity, Autoimmune th... |
OMIM:614470 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level, Keratoconjunctivitis sicca, Uve... |
OMIM:617388 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta... |
OMIM:618982 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type... |
ORPHA:37042 |
Pgm3-Cdg |
|
Cutaneous abscess, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increase... |
ORPHA:443811 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
OMIM:616100 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Fulminant hepatitis, Reduced natural killer cell activity, Decre... |
OMIM:308240 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
ORPHA:859 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
OMIM:300400 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
ORPHA:275 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... |
ORPHA:48435 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Inflammatory Pseudotumor Of The Liver |
|
Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, Skin rash, Rheuma... |
OMIM:615934 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... |
OMIM:613500 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Nephrotic range proteinuria, Abnormal lymphocyte physiology, Impaired T cell functi... |
ORPHA:1830 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... |
ORPHA:567548 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Cirrhosis, Familial |
|
Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Hepatitis, Autoimmunity, Increased circulating IgM level, Antinu... |
ORPHA:186 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Decreased circulating total IgM |
OMIM:182410 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Renal insufficiency, Increas... |
ORPHA:83313 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:331206 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Autoimmune ant... |
ORPHA:555905 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Keratoconjunctivitis ... |
ORPHA:79078 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Increased circulating ... |
ORPHA:2442 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... |
ORPHA:448237 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Prostatitis, Complement deficiency, Abnormality of the kidn... |
ORPHA:449432 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria |
OMIM:619858 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... |
OMIM:619281 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... |
OMIM:243700 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Pneumonia, Bronchiec... |
OMIM:242860 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level |
ORPHA:2688 |
Igg4-Related Thyroid Disease |
|
Sclerosing cholangitis, Anti-thyroid peroxidase antibody positivity, Increased circulating IgG4 l... |
ORPHA:64744 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... |
ORPHA:90291 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619824 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... |
OMIM:615767 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Argininuria, Oroticaciduria, Pancreatitis, Decreased glomer... |
ORPHA:470 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media |
OMIM:312863 |
Brucellosis |
|
Osteomyelitis, Intrarenal abscess, Orchitis, Arteritis, Rheumatoid factor positive, Increased cir... |
ORPHA:1304 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... |
OMIM:614376 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... |
OMIM:617303 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... |
OMIM:619924 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Maculopapular exanthema, Membranoproliferative glomerulonephritis, Renal insu... |
OMIM:619644 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Autoimmune thrombocytopenia, Stomatitis, Decreased circulating a... |
OMIM:613011 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... |
ORPHA:74 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Diffuse mesangi... |
OMIM:102700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Conjun... |
OMIM:614700 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Skin rash, Panniculitis |
OMIM:617099 |
Prolidase Deficiency |
|
Increased circulating antibody level, Systemic lupus erythematosus, Eczema, Crusting erythematous... |
OMIM:170100 |
Insulin-Resistance Syndrome Type B |
|
Systemic lupus erythematosus, Increased circulating IgA level, Decreased serum complement factor ... |
ORPHA:2298 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... |
ORPHA:276 |
Immunodeficiency 96 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infections, Decr... |
OMIM:619752 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Colonic eosinophilia, Membranous nephropathy |
OMIM:618999 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Lassa Fever |
|
Oliguria, Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Autoimmunity, Atopic dermatitis |
ORPHA:2902 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Decreased circulating IgG level, Antineutrophil antibody positivity, Bo... |
OMIM:301078 |
Q Fever |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Osteomyelitis, Antica... |
ORPHA:781 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Recurrent urinary tr... |
ORPHA:36234 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... |
OMIM:619510 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Increased circula... |
ORPHA:289390 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Goodpasture Syndrome |
|
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Proteinuria, Cytoplasmic antin... |
OMIM:233450 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Complement deficiency, Macroscopic hematuria, Focal segmental glomerulosc... |
ORPHA:567546 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... |
OMIM:619705 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Renal cyst, Membranous nephropathy |
ORPHA:400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity, Urinary incontinence |
ORPHA:83600 |
Primary Sclerosing Cholangitis |
|
Pancreatitis, Polyclonal elevation of IgM, Hepatitis, Uveitis, Autoimmunity, Renal insufficiency,... |
ORPHA:171 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:251190 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Rift Valley Fever |
|
Skin rash, Increased circulating IgG level, Hematuria, Hepatitis, Uveitis, Increased circulating ... |
ORPHA:319251 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Decreased circulating IgG level, Heparan sulfate excretion in urine, Enlarged... |
ORPHA:505248 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstruction, Abnormality of ... |
ORPHA:2035 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level |
OMIM:618523 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... |
OMIM:147060 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Coccidioidomycosis |
|
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Abnormality of the kidney, Peritonitis, Inc... |
ORPHA:228123 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis... |
ORPHA:217390 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Chronic kidney disease, Decreased glomerular f... |
ORPHA:340 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney |
ORPHA:251004 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Tempi Syndrome |
|
Abnormality of the kidney, Increased circulating IgG level |
ORPHA:284227 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morph... |
OMIM:137940 |
Agammaglobulinemia, X-Linked |
|
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... |
OMIM:300755 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis |
OMIM:161200 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Pneumonia, Cutaneo... |
ORPHA:3392 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Japanese Encephalitis |
|
Infectious encephalitis, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Increased circulating IgM level, Myelitis, Increased circula... |
ORPHA:297 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Increased c... |
ORPHA:449563 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Nephropathy, Increased circulating IgG level... |
ORPHA:29073 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Netherton Syndrome |
|
Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, Hydroneph... |
ORPHA:634 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Increased circulat... |
OMIM:301000 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating total IgM, Constrictive pericarditis, Decr... |
ORPHA:90363 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
OMIM:275350 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Cocaine Intoxication |
|
Colitis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomeruloneph... |
ORPHA:90068 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Increased circulating IgE level |
OMIM:270300 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Netherton Syndrome |
|
Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
Crimean-Congo Hemorrhagic Fever |
|
Orchitis, Conjunctivitis, Increased circulating IgG level, Hematuria, Myocarditis, Cholecystitis,... |
ORPHA:99827 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Pancolitis, Increased... |
OMIM:618213 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... |
ORPHA:91500 |
Immunodeficiency 43 |
|
Bronchiectasis, Decreased circulating IgG level |
OMIM:241600 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... |
ORPHA:439232 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... |
ORPHA:449427 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis |
ORPHA:507 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency |
ORPHA:33226 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Abnormality of the kidney, Hepatitis, Infectious encephaliti... |
ORPHA:1163 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Renal insuffici... |
ORPHA:99829 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urinary bladder sphincter dysfunction, Chronic kidney disease, Recurrent skin infections, Abnorma... |
ORPHA:79408 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Pneumocystosis |
|
Increased circulating antibody level, Interstitial pneumonitis, Chronic oral candidiasis, Acute i... |
ORPHA:723 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:90362 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis |
ORPHA:343 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, ... |
OMIM:617591 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... |
ORPHA:420741 |
Lead Poisoning |
|
Renal tubular dysfunction, Chronic kidney disease, Skin rash, Abnormality of humoral immunity, Tu... |
ORPHA:330015 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:620040 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Renal angiomyolipoma, Incre... |
OMIM:260920 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Increased circulating IgE level |
ORPHA:2314 |
Bloom Syndrome |
|
Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, Skin rash, Otitis me... |
ORPHA:125 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612301 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Renal interstitial amyloid deposits, Ab... |
ORPHA:85443 |
Mogs-Cdg |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:79330 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... |
ORPHA:508533 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Otitis media, Pneumonia, Panhypogammaglobulinemia |
OMIM:602450 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate... |
OMIM:619525 |
Immunodeficiency 47 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... |
OMIM:300972 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Congenital megaureter, Decreased circulating total IgM, Abnormal... |
ORPHA:369837 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Osteoarthritis, Hematuria, Proteinuria |
ORPHA:77259 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
Scleromyxedema |
|
Abnormality of the kidney, Paraproteinemia |
ORPHA:167635 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:210900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased lymphocyte proliferation in response to mitogen, Crohn's disease, Colitis, Gastritis, O... |
OMIM:619381 |
Mevalonic Aciduria |
|
Increased circulating IgD level, Morbilliform rash, Elevated urine mevalonic acid, Skin rash |
OMIM:610377 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Increased circulating antibody level, Renal cyst, Cholangitis,... |
ORPHA:284 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:620005 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Nephrotic syndrome, Skin rash, Atopic dermatitis, Chilblain... |
OMIM:615846 |
Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Hematuria, Proteinuria |
ORPHA:77261 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Inflammation of the large intestine, Arthrit... |
OMIM:181000 |
Cysticercosis |
|
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Trichinellosis |
|
Increased circulating IgE level, Conjunctivitis, Skin rash |
ORPHA:863 |
Alström Syndrome |
|
Dysuria, Chronic kidney disease, Pancreatitis, Otitis media, Micropenis, Recurrent urinary tract ... |
ORPHA:64 |
Viss Syndrome |
|
Chronic gastritis, Decreased circulating IgA level, Eczema, Atopic dermatitis, Increased circulat... |
OMIM:619472 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory... |
ORPHA:83617 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydroureter, Nephroblastoma, Ureteral duplication, Multicystic ... |
ORPHA:373 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Osteoarthritis, Hematuria, Hepatitis, Protei... |
ORPHA:355 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... |
ORPHA:99826 |