Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
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Recurrent infections |
OMIM:215518 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Gamma-A-Globulin, Defect In Assembly Of |
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Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... |
OMIM:605258 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 24 |
|
Recurrent viral infections, Severe varicella zoster infection, Decreased circulating IgG2 level, ... |
OMIM:615897 |
Secretory Component Deficiency |
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Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, Post-vaccination polio, Recurrent infections |
OMIM:616941 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... |
OMIM:606843 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... |
OMIM:608106 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... |
OMIM:137100 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:613502 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections |
OMIM:615214 |
Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... |
OMIM:618459 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:612692 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections, Decreased lymphoc... |
OMIM:615592 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Agammaglobulinemia 3, Autosomal Recessive |
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Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... |
OMIM:300636 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent bacterial meningitis, Reduced natural killer cell activity, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I... |
OMIM:615513 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... |
OMIM:618944 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Persistent EBV viremia, Recurrent sin... |
OMIM:620282 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... |
OMIM:616740 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent candida infections |
OMIM:269840 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... |
OMIM:618982 |
Immunodeficiency 25 |
|
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... |
OMIM:610163 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... |
ORPHA:169160 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 96 |
|
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat... |
OMIM:607594 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Recurrent bronchitis |
OMIM:312863 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Decreased circulating antibody level, Persistent EBV... |
OMIM:617514 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... |
OMIM:615207 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Decreased circulating antibody level, Re... |
OMIM:616576 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Rec... |
OMIM:615577 |
Activated Pi3K-Delta Syndrome |
|
Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating antibody level, S... |
ORPHA:397596 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased circulating anti... |
OMIM:619846 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... |
OMIM:308240 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, Panhypogammaglobulinemia, Meningitis, Failure to thrive secon... |
OMIM:601457 |
Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Persistent EBV ... |
OMIM:615122 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections |
ORPHA:169079 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Recurrent upper res... |
ORPHA:169154 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616910 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... |
OMIM:615559 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Recurrent bacterial infections,... |
ORPHA:331206 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased circulating antibody ... |
OMIM:614470 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... |
OMIM:616100 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent p... |
OMIM:300755 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Recurrent infections |
OMIM:301045 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... |
OMIM:600802 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Sepsis, Decreased circulating antibody level |
ORPHA:33355 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Partial absence of specific antibody response to tetanus vaccin... |
OMIM:618108 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o... |
ORPHA:35078 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Recurrent viral infections, Recurrent bacterial infections, Incr... |
OMIM:618048 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, BCGitis, Recurrent infections, Impaired oxidative burst, Abnorm... |
OMIM:226990 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... |
ORPHA:436159 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
ORPHA:90045 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Schimke Immunoosseous Dysplasia |
|
Decreased circulating antibody level, Abnormal immunoglobulin level, Recurrent infections |
OMIM:242900 |
Sézary Syndrome |
|
Abnormal immunoglobulin level |
ORPHA:3162 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |