Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
toll-like receptor adaptor molecule 1
Synonyms:
TICAM-1,  Trif

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ticam1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ticam1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Respiratory failure requirin... ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850

The table below shows human diseases predicted to be associated to Ticam1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Abnormal heart morphology, Decreased circulating antibody level, Recurrent inf... OMIM:617744
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Recurrent fungal infections, Decr... OMIM:300400
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Immunodeficiency 20
Recurrent oral herpes, Recurrent viral upper respiratory tract infections, Recurrent otitis media... OMIM:615707
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Increased alpha-globulin, Histiocytosis OMIM:235900
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology, Increased circulat... OMIM:613101
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 17
Eczema, Failure to thrive, Recurrent otitis media, Decreased proportion of CD8-positive T cells, ... OMIM:615607
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia OMIM:615214
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hypertriglyceridemia OMIM:608898
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia, Asthma OMIM:616871
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduce... OMIM:617241
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... ORPHA:331235
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Recu... OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Decreased circulating IgG level, Decreased circulating antibody level, F... OMIM:308240
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon... ORPHA:829
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii
Membranous nephropathy, Reduced natural killer cell activity, Recurrent otitis media, Recurrent i... OMIM:615559
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immunodeficiency 91 And Hyperinflammation
BCGosis, Monocytosis, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, Neutrop... OMIM:619644
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... ORPHA:169160
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Fa... OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... OMIM:619220
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Congenital Enterovirus Infection
Myocarditis, Sepsis, Leukocytosis, Infectious encephalitis, Pericardial effusion, Neutropenia, Le... ORPHA:292
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding, Autoimmune thrombocytopenia... ORPHA:3325
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Bacterial Toxic-Shock Syndrome
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Recurrent protozoan infections... ORPHA:572
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Incr... OMIM:618495
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Respiratory insufficiency, Leukopenia, Monoc... OMIM:612541
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, Recurrent respiratory infections, T lymphocyt... OMIM:233650
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell activity, Increased circulating ferritin concentrati... OMIM:616050
Legionnaires Disease
Myocarditis, Hyponatremia, Sepsis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis... ORPHA:549
Immunodeficiency 85 And Autoimmunity
Eczema, Failure to thrive in infancy, Erythroderma, Decreased circulating IgA level, Oligoarthrit... OMIM:619510
Q Fever
Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Vasculitis, Maculopapular exanthema, Ab... ORPHA:781
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... OMIM:209920
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Pulmonary insufficiency, Inflammatory abnormality of the skin, B lymphocytopenia, Recu... ORPHA:277
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased... OMIM:615285
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Immunodeficiency 46
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... OMIM:616740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... ORPHA:70593
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infections, Re... OMIM:618261
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormality of serum cytokine level, Microangiopathic hemolytic anemia, Coombs-posit... ORPHA:464343
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Elevated circulating creatine kinase concentra... ORPHA:81
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell function, Recurrent op... ORPHA:35078
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Recurren... OMIM:300635
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Transient ischem... ORPHA:1304
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent upper respiratory tract infe... OMIM:615518
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Elevated circulating creatine kinase concentration, Palpitations, Raynaud ... ORPHA:206569
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233710
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia OMIM:602079
Rheumatic Fever
Myocarditis, Sinusitis, Pericarditis, Abnormal mitral valve morphology, Abnormal aortic valve mor... ORPHA:3099
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Failu... OMIM:615767
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decrea... OMIM:618108
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent infections, Monocytosis OMIM:610680
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre... OMIM:616576
Rat-Bite Fever
Myocarditis, Sepsis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Weight l... ORPHA:31205
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... ORPHA:1302
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Splenomegaly, Recurrent respiratory infections, Dyspnea, Sea-blue histioc... OMIM:607616
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... OMIM:308230
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Candidiasis, Familial, 2
Chronic oral candidiasis, Decreased serum iron, Chronic tinea infection, Onychomycosis, Increased... OMIM:212050
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Hypoxemia, Sepsis, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pl... ORPHA:36238
Acute Lung Injury
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Sepsis, Incr... ORPHA:178320
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Whipple Disease
Myocarditis, Hyponatremia, Cachexia, Infectious encephalitis, Pericarditis, Myositis, Anemia, Art... ORPHA:3452
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Immunodeficiency 66
Defective T cell proliferation, Sepsis, Recurrent skin infections, Pustule OMIM:618847
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Reticular Dysgenesis
Sepsis, Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating a... ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Recurrent infections, Increased circulating antibody level, Skin rash, Thrombo... OMIM:618048
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Shigellosis
Myocarditis, Hyponatremia, Sepsis, Conjunctivitis, Hypovolemic shock, Leukocytosis, Pneumonia, Pe... ORPHA:810
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Hepatosplenomegaly, Recurrent respiratory infections, ... OMIM:606367
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Brain abscess, Increased circulating interleukin 6, Myocarditis, Hype... ORPHA:544482
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, ... ORPHA:183
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Pericarditis, Episcleritis, Elevated circulating... ORPHA:801
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Cardiomyopathy, Splenomegaly, Congestive heart failure, Ski... ORPHA:3386
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Splenomegaly, Meningitis, Skin rash, Hypo... ORPHA:83317
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal blood g... ORPHA:70578
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Recurrent viral upper respiratory tract... OMIM:615577
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Weight loss, Pancreatitis, Arrhythmia, Hypotension ORPHA:188
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, B lymphocytopenia, Recurrent fungal infections, ... OMIM:603554
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Pulmonary arterial h... ORPHA:809
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Microsporidiosis
Brain abscess, Sepsis, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Infectious encephalitis, L... ORPHA:2552
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Lymphoproliferative Syndrome 1
Pericardial effusion, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulat... OMIM:613011
Lujo Hemorrhagic Fever
Myocarditis, Shock, Leukocytosis, Leukopenia, Subconjunctival hemorrhage, Rhinitis, Fulminant hep... ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancre... ORPHA:99827
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Slc35A1-Cdg
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory dis... ORPHA:238459
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Cutaneo... OMIM:600802
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Neutropenia in ... OMIM:613179
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating Ig... OMIM:102700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Listeriosis
Brain abscess, Sepsis, Myocarditis, Septic arthritis, Unusual CNS infection, Granulomatosis, Live... ORPHA:533
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Eczema, Macrocytic anemia, Decreased circulating antibody level, Recurrent infect... OMIM:617780
Felty Syndrome
Sinusitis, Sepsis, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media, Rhin... ORPHA:47612
Lymphoproliferative Syndrome 2
Sepsis, Severe varicella zoster infection, Pancytopenia, Decreased circulating antibody level, Re... OMIM:615122
Pulmonary Arteriovenous Malformation
Brain abscess, Hypoxemia, Telangiectasia, Heart murmur, Iron deficiency anemia, Palpitations, Epi... ORPHA:2038
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... OMIM:150550
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections, Abnormal cardiac septum morphology ORPHA:99811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Colchicine Poisoning
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypoma... ORPHA:31824
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Hyponatremia, Infectious encephalitis, Reduced natural killer cell activity, Inc... OMIM:603553
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... ORPHA:3226
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Decreased... ORPHA:231111
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia, Obesity OMIM:605309
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Elevated circulati... ORPHA:90291
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, F... OMIM:615934
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi... OMIM:618042
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Decreased circulating IgA level, Decreased circulating IgG... ORPHA:90362
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections, Neutropenia OMIM:246550
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Decreased circulating total IgM, Hemolyti... OMIM:600903
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, E... ORPHA:101096
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Failure... ORPHA:33110
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Increased circulatin... ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Eosi... OMIM:615816
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Zygomycosis
Brain abscess, Sinusitis, Myocarditis, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, Gast... ORPHA:73263
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Reduced natural... OMIM:608233
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp... OMIM:241600
Simple Cryoglobulinemia
Viral hepatitis, Hypertension, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobuli... ORPHA:91139
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Anemia, Cough, Dyspnea, Pulmonary venous hypertension, Increased DLCO, R... ORPHA:90060
Kawasaki Disease
Myocarditis, Leukocytosis, Pericarditis, Double outlet right ventricle with subpulmonary ventricu... ORPHA:2331
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Kikuchi-Fujimoto Disease
Myocarditis, Pustule, Neutropenia, Leukopenia, Weight loss, Anemia, Vasculitis in the skin, Splen... ORPHA:50918
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Recurrent infections, Giant neutrophil granules... OMIM:214500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Respiratory insufficiency, Abnormal respiratory system physio... ORPHA:133
Acute Promyelocytic Leukemia
Productive cough, Leukocytosis, Ecchymosis, Chronic infection, Neutropenia, Gingival bleeding, Le... ORPHA:520
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Macrophage Activation Syndrome
Increased circulating interleukin 6, Hepatitis, Increased inflammatory response, Increased circul... ORPHA:158061
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Anemia, Recurrent infections, Reticulocyto... ORPHA:88
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, E... OMIM:612840
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Neutropenia, Splenomegaly, Increased circulating ferritin concent... ORPHA:158048
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Cough, Tachycardia, Neut... ORPHA:91547
Progressive Multifocal Leukoencephalopathy
Meningitis, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T c... ORPHA:217260
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Neutropenia, Intracranial hemorrhage, Pneumonia, Bronch... ORPHA:1163
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Helicobacter pylo... OMIM:618131
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Failure to thrive, Aplasia of the thymus, Recurrent upper respiratory tract infections... OMIM:602450
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Thymic Tumor
Dysgammaglobulinemia, Cardiac arrest, Pericarditis ORPHA:100100
Scedosporiosis
Sinusitis, Sepsis, Arthralgia/arthritis, Pulmonary tuberculosis, Unusual skin infection, Opportun... ORPHA:449280
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse, Decreased circulating IgG level, Decreased lymphocyte proliferation in res... ORPHA:508533
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Pericarditis, Episcleritis, Chondritis of pinna, Ch... ORPHA:728
Dermatomyositis
Myocarditis, Pericarditis, Weight loss, Pulmonary arterial hypertension, Telangiectasia of the sk... ORPHA:221
Polyarteritis Nodosa
Hypertension, Pericarditis, Weight loss, Cardiomyopathy, Raynaud phenomenon, Elevated circulating... ORPHA:767
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Failure to thrive, Increased circula... OMIM:617388
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Cor pulmonale, Small for gestational age, Abnormal T cell morpho... OMIM:215250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Failure to thrive, Reduced... OMIM:242860
Ataxia-Telangiectasia
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Bronchiectasis, Defective B cel... OMIM:208900
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections, Failure to thrive DECIPHER:45
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Abnormal heart morphology, Decreased circulating IgG level, Decr... OMIM:617062
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Agammaglobulinemia, X-Linked
Sinusitis, Cor pulmonale, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Ent... OMIM:300755
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Esophagitis, Tela... ORPHA:3342
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Pneumonia, Budd-Chiari syndrome, Iron deficiency anemia, Decreas... OMIM:226300
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Incre... ORPHA:3243
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating... ORPHA:221139
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Postinfectious Vasculitis
Severe varicella zoster infection, Raynaud phenomenon, Recurrent candida infections, Elevated cir... ORPHA:48435
Leishmaniasis
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Abnormal bleeding, In... ORPHA:507
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Hereditary Folate Malabsorption
Eosinophilia, Cheilitis, Failure to thrive, Decreased circulating antibody level, Megaloblastic a... ORPHA:90045
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Neutropenia, Anemia, Respiratory distress, Thrombocytopenia ORPHA:289916
Vici Syndrome
Recurrent bacterial infections, Dilated cardiomyopathy, Failure to thrive, Recurrent fungal infec... OMIM:242840
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... ORPHA:449400
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Failure to thrive, Panniculitis, Recurrent infections, Arthritis, Anemia, Sp... OMIM:617591
Sepsis In Premature Infants
Neutropenia, Abnormal respiratory system physiology, Petechiae, Splenomegaly, Neonatal sepsis, El... ORPHA:90051
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin rash, Elevated ... ORPHA:85414
Bloom Syndrome
Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, Decreased circ... ORPHA:125
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ab... ORPHA:567983
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Atrial fibrillation, Mitral regurgitation, Ve... ORPHA:217607
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Abnormal mitral valve morpholo... ORPHA:732
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... OMIM:275350
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Palpitations, Decreased circulating IgG level... OMIM:602668
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Respiratory failure requirin... ORPHA:1930
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopulmonary infections, Reduced d... OMIM:242700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Eosinophilia, Elevated circulating C-reactive protein concentration... ORPHA:449395
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... ORPHA:3261
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreas... OMIM:619381
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Recurrent lower r... ORPHA:86816
Cystic Fibrosis
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:586
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculop... ORPHA:83313
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Polycythemia Vera
Hypertension, Respiratory insufficiency, Acute leukemia, Gingival bleeding, Budd-Chiari syndrome,... ORPHA:729
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Bloom Syndrome
Small for gestational age, Bronchiectasis, Decreased circulating IgA level, Facial telangiectasia... OMIM:210900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Sepsis, Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Failure to t... ORPHA:293978
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Apnea, Neutropenia, Recurrent infections OMIM:608809
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti... ORPHA:542323
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Neutropenia, Decreased circulating IgG level, Hypoalbuminemia OMIM:600351
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Conjunctival telangiectasia ORPHA:1951
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... ORPHA:2968
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... OMIM:300972
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Severe infection, Increased circulating IgG level ORPHA:206594
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropeni... ORPHA:37042
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Decreased proportion of class-switched memory B cells, Decre... OMIM:233600
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Uveitis, V... ORPHA:32960
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hypertension, Pericarditis, Pericardial effusion, Failure to thrive, Weight los... OMIM:619487
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Recurrent bronchitis, Chronic otitis media, Bronchiectas... ORPHA:1572
Riddle Syndrome
Telangiectasia, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recu... ORPHA:420741
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... ORPHA:51636
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Polycythemia, Cardiomyopathy, Myocardial infarction, Abn... ORPHA:892
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hyperammonemia, Uveitis, Maculopapular exanthema, Capillar... ORPHA:99826
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent urinary tract ... ORPHA:169105
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Impaired T cell function, Elevated circulating creatine kina... OMIM:614576
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Norm... ORPHA:811
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Decreased circulating IgA level, Elevated circulating... OMIM:613327
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatit... ORPHA:2137
Immunodeficiency 22
Failure to thrive, Recurrent respiratory infections, Panniculitis, Decreased proportion of CD4-po... OMIM:615758
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Neutropenia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Recurrent ... ORPHA:906
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding tim... ORPHA:90308
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Lung abscess, Acute colitis, Weight loss, Anemia, Conges... ORPHA:67
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Coccidioidomycosis
Vasospasm, Cerebral ischemia, Vasculitis, Unusual CNS infection, Eosinophilia, Morbilliform rash,... ORPHA:228123
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Elevated circulating amyloid A, Arthritis, Splenomegaly,... OMIM:249100
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Polycythemia, Increased circulating IgG level, Increased... ORPHA:284227
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... ORPHA:66628
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Ventricular hyper... OMIM:617321
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Weight loss, Keratitis, Iritis, O... ORPHA:3385
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Granulomatosis With Polyangiitis
Sinusitis, Chronic otitis media, Cerebral ischemia, Recurrent intrapulmonary hemorrhage, Gastroin... ORPHA:900
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... ORPHA:179494
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Apnea, Bradycardia, Neonatal sepsis, Thrombocytopenia, Hypotension ORPHA:391673
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration, Weight lo... ORPHA:93672
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Elevated circulating C-reactive protein conc... ORPHA:70591
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Hyponatremia, Hyperkalemia, Leukopenia, Anemia, Recurrent... OMIM:617053
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersple... OMIM:613385
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Dyspnea OMIM:246400
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, ... OMIM:612301
Burkitt Lymphoma
Abnormality of the spleen, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive help... ORPHA:543
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Left-to-right sh... ORPHA:99095
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Cough, Raynaud phenomenon, Pulmonary venous hypert... ORPHA:79128
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Large for gestational age OMIM:616638
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic a... OMIM:187300
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Dec... ORPHA:199241
Nocardiosis
Brain abscess, Sepsis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:31204
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... ORPHA:727
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Pneumonia, Leukopenia, Abnormal circulating lipid concentration, Abno... ORPHA:2298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Splenomegaly, Neutrophilia, Respiratory distress, Elevated circulating C-reactive protei... OMIM:612852
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... ORPHA:85436
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... ORPHA:3092
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Parotitis, Splenomegaly, Elevated circulating C-reactive pro... OMIM:256040
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Facial telangiectasia, Decreased circulating IgA level, Leukemia, Conjunctival telangiectasia, El... OMIM:208910
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Pericardial effusion, Decreased circulating IgA level, Hypocholesterolemia, Decre... OMIM:212065
Psoriasis 14, Pustular
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Hemolytic anemia, Hypokalemia, Recurrent fungal infection... OMIM:619573
Behçet Disease
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Splenomegaly, Gastrointestinal hem... ORPHA:117
Sickle Cell Anemia
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... OMIM:603903
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Arrhythmia OMIM:250220
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine... ORPHA:29073
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, M... ORPHA:297
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Sp... OMIM:260920
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Recurrent bacterial infections, Pneumoni... ORPHA:99104
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Epistaxis, Pulmonary arterial hypertension, Conjunctival telangiectasia, Tel... ORPHA:774
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Hypopnea, Petechiae, Prolonged prothr... ORPHA:2330
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Weight loss, Ar... ORPHA:29207
Lysinuric Protein Intolerance
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... ORPHA:470
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Rift Valley Fever
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Melena, Severe viral... ORPHA:319251
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... OMIM:212750
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Raynaud phenomenon, Splenomegaly, Hepatosplenomegaly, Transient ischemic ... ORPHA:3260
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections OMIM:258360
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Raynaud ... ORPHA:289390
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Hyperlipidemia, Impaired T cell function, Bone marrow hypocell... ORPHA:1830
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Chronic lymphocytic meningitis, Recurrent otitis m... ORPHA:99843
Yellow Fever
Shock, Leukocytosis, Increased circulating interleukin 6, Reduced ejection fraction, Prolonged pr... ORPHA:99829
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age ORPHA:457485
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... ORPHA:449427
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia, Hyperlipidemia, Hyperuricemia OMIM:232220
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Dubowitz Syndrome
Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Cough, Vasculitis, Cardiorespiratory arrest, Pulmonary embolism,... ORPHA:228116
Orotic Aciduria
Impaired T cell function OMIM:258900
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Hypertension, Sepsis, Elevated circulating creatine kinase concentr... ORPHA:94093
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Leptospirosis
Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Opti... ORPHA:509
Japanese Encephalitis
Infectious encephalitis, Abnormal pattern of respiration, Respiratory paralysis, Neutrophilia, Re... ORPHA:79139
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Myocardial infarction, Meningit...