Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... |
OMIM:613501 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... |
OMIM:613953 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:606843 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating antibody level, Decreased circulating IgG l... |
OMIM:193670 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level |
ORPHA:169079 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:209920 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607594 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... |
ORPHA:2688 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... |
OMIM:243700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgA level, Recurrent bacterial skin infections, Decreased circulating IgG l... |
ORPHA:276 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... |
ORPHA:572 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... |
OMIM:601495 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
Thymic Aplasia |
|
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... |
ORPHA:83471 |
Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Recurrent bacterial infections, Recurrent ... |
OMIM:116920 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... |
OMIM:147060 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Abnormal ... |
OMIM:618048 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:616005 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... |
OMIM:307200 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... |
ORPHA:183675 |
Omenn Syndrome |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Hypoprot... |
OMIM:603554 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... |
OMIM:614172 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... |
ORPHA:911 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... |
OMIM:610984 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
ORPHA:331206 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... |
ORPHA:169090 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media |
OMIM:617475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Recurrent bacterial infections, Recurrent opportunis... |
OMIM:613179 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Recurrent... |
OMIM:606367 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233690 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... |
ORPHA:486 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Severe varicella zoster infection, Recurrent staphylococcal infe... |
OMIM:615816 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Recurrent fungal infections, Absent specific antibody response, ... |
OMIM:102700 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Vici Syndrome |
|
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Chr... |
OMIM:242840 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating total IgA, Decreased... |
ORPHA:221139 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Postinfectious Vasculitis |
|
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... |
ORPHA:48435 |
Pgm3-Cdg |
|
Recurrent fungal infections, Increased circulating IgA level, Sepsis, Recurrent bacterial infecti... |
ORPHA:443811 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Hyponatremia, Hyperka... |
OMIM:617053 |
Immunodeficiency 47 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:300972 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:306400 |
Whim Syndrome |
|
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... |
ORPHA:51636 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Hypoproteinemi... |
ORPHA:167 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis m... |
OMIM:608233 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... |
ORPHA:542323 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Increased LDL... |
ORPHA:470 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... |
OMIM:612541 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Elevated circulating C-reactive protein concentration, Recurrent fungal infections, ... |
OMIM:619573 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media |
ORPHA:244 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Sickle Cell Anemia |
|
Recurrent bacterial infections |
OMIM:603903 |
Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Sepsis, Recurrent bacterial infections, Recurrent viral infections, Increased ser... |
ORPHA:811 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent tonsillitis, Sepsis, Recurrent u... |
ORPHA:2968 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Recurrent bacterial infections, Hypertriglyceridemia, Hyperuricemia, Hypercholest... |
ORPHA:79259 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |