Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
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 With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... |
OMIM:300400 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... |
OMIM:613101 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... |
OMIM:308240 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Reduce... |
OMIM:615559 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity |
OMIM:608898 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... |
ORPHA:98813 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... |
OMIM:616050 |
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 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Abnormal immunoglobu... |
ORPHA:276 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... |
OMIM:619374 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... |
ORPHA:178320 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... |
OMIM:608184 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... |
OMIM:147060 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch... |
ORPHA:83471 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... |
ORPHA:331206 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... |
OMIM:616005 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation in ... |
OMIM:606367 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity, Increased ci... |
OMIM:603553 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... |
OMIM:614868 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Pancreat... |
ORPHA:544482 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Increased circulating IgA level, Reduced natural killer cell activity, ... |
OMIM:301000 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Pgm3-Cdg |
|
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra... |
ORPHA:443811 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... |
ORPHA:911 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... |
OMIM:615816 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... |
ORPHA:221139 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233690 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Meningitis, Recurrent uppe... |
OMIM:600802 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... |
OMIM:603554 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... |
OMIM:300972 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:306400 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... |
ORPHA:470 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Recurrent bacterial in... |
OMIM:615895 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... |
ORPHA:36412 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Recurrent skin infections, Sepsis |
OMIM:612840 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Hypoamylasemi... |
ORPHA:811 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... |
ORPHA:60033 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Abnormal lymphocyte prolifer... |
OMIM:619573 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Recurrent bacterial infec... |
OMIM:617053 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormality of cytokine secretion, Abnormal circul... |
ORPHA:567983 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... |
OMIM:232220 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Chronic r... |
ORPHA:244 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerati... |
ORPHA:171 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... |
OMIM:612541 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... |
OMIM:612132 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recur... |
ORPHA:79259 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... |
ORPHA:642 |