Immunodeficiency 34 |
|
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections |
OMIM:300645 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections |
OMIM:308220 |
Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... |
ORPHA:70592 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... |
OMIM:611521 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:616126 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections |
OMIM:616022 |
Immunodeficiency 116 |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... |
OMIM:615897 |
Immunodeficiency 51 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... |
OMIM:613953 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... |
OMIM:300310 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:613494 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... |
ORPHA:319552 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... |
OMIM:613500 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... |
OMIM:605258 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Immunodeficiency 27B |
|
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections |
OMIM:615978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur... |
OMIM:613501 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... |
OMIM:300636 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections |
OMIM:616873 |
Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 110 With Lymphoproliferation |
|
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... |
OMIM:614868 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections |
OMIM:608106 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Immunodeficiency 112 |
|
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... |
OMIM:620449 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... |
OMIM:608184 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections |
OMIM:613502 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... |
OMIM:209920 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:612692 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent viral infections, Recurrent upper and lower respiratory tract... |
ORPHA:275 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Meningiti... |
OMIM:240500 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Recurrent fungal infections, Recurrent bacterial infections, Helicobacter p... |
ORPHA:2688 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... |
ORPHA:83471 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
ORPHA:169079 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Sepsis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin inf... |
ORPHA:276 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent... |
OMIM:607594 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... |
OMIM:610984 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Sepsis, Recurrent otitis media, Molluscum contagiosum, Disseminated molluscum contagiosum, Severe... |
OMIM:243700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous c... |
ORPHA:572 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin infections,... |
ORPHA:911 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Invasive fungal infection, Severe vira... |
ORPHA:98813 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... |
ORPHA:169090 |
Immunodeficiency 115 With Autoinflammation |
|
Recurrent viral infections, Candida esophagitis, Recurrent bacterial infections |
OMIM:620632 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections |
OMIM:245480 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... |
OMIM:116920 |
Specific Granule Deficiency 2 |
|
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media |
OMIM:617475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233710 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s... |
ORPHA:331235 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent otitis media, Pyoderma, Recurrent urinary tract infections, Meningitis, Recurrent enter... |
OMIM:307200 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... |
OMIM:300853 |
Immunodeficiency 10 |
|
Sepsis, Recurrent otitis media, Recurrent infections, Recurrent urinary tract infections, Recurre... |
OMIM:612783 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent tonsillit... |
ORPHA:183675 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233690 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent pneumoni... |
OMIM:601495 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infections |
OMIM:607676 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... |
ORPHA:486 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:601859 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency 21 |
|
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... |
OMIM:614172 |
Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Rec... |
OMIM:616005 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Recurrent bacterial infections |
OMIM:612840 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:618048 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent lower respiratory tract infections, Recurrent bacterial inf... |
OMIM:615468 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Severe varicella zoster infection, Recurrent viral infections, Recurren... |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent upper and lower respiratory tract infections, Recurrent ent... |
ORPHA:331206 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Recurrent viral... |
OMIM:613179 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:306400 |
Immunodeficiency 23 |
|
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... |
OMIM:615816 |
Omenn Syndrome |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections |
OMIM:603554 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... |
OMIM:600802 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:603909 |
Pgm3-Cdg |
|
Sepsis, Recurrent infections, Recurrent viral infections, Recurrent pneumonia, Recurrent respirat... |
ORPHA:443811 |
Hypocomplementemic Urticarial Vasculitis |
|
Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Patent Urachus |
|
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections |
ORPHA:431341 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections |
OMIM:617053 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:608233 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections, Recurren... |
OMIM:620565 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Chronic mucocutaneous candidiasis, Recurrent viral infections, Recurrent pneumonia, Recurrent fun... |
OMIM:102700 |
Hereditary Orotic Aciduria |
|
Impaired T cell function, Patent ductus arteriosus |
ORPHA:30 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Patent ductus ar... |
OMIM:614576 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in... |
OMIM:612541 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Chédiak-Higashi Syndrome |
|
Recurrent infections, Recurrent bacterial skin infections, Recurrent staphylococcal infections, R... |
ORPHA:167 |
Postinfectious Vasculitis |
|
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... |
ORPHA:48435 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections |
ORPHA:244 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... |
ORPHA:35078 |
Whim Syndrome |
|
Sepsis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Meningitis, Recurrent ... |
ORPHA:51636 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Recurrent viral infections, Recurrent respiratory infections, ... |
OMIM:242840 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Cystic Fibrosis |
|
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... |
ORPHA:586 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Chediak-Higashi Syndrome |
|
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections |
OMIM:214500 |
Immunodeficiency 87 And Autoimmunity |
|
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec... |
OMIM:619573 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... |
OMIM:618213 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function |
ORPHA:1830 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Immunodeficiency 47 |
|
Recurrent infections, Recurrent bacterial infections |
OMIM:300972 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Recurrent bacterial infections, Sepsis |
ORPHA:811 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, BCGosis, Recurrent urinary tract infecti... |
ORPHA:2968 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... |
OMIM:301000 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous candi... |
OMIM:147060 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections |
ORPHA:2273 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Patent ductus arteriosus |
ORPHA:567 |
Digeorge Syndrome |
|
Impaired T cell function, Patent ductus arteriosus |
OMIM:188400 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |