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
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... 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
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... 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
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... OMIM:269840
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency 15A
Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-po... OMIM:618204
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster infection, T lymp... OMIM:618986
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial... OMIM:202700
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Candida esophagit... OMIM:619281
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Recurrent upper respiratory tract infectio... OMIM:613101
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency 20
Reduced natural killer cell activity, Recurrent viral upper respiratory tract infections, Recurre... OMIM:615707
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Asthma, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia OMIM:616871
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hypertriglyceridemia OMIM:608898
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive... OMIM:617241
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Elevated circulating C-reactive protein concentration, Fulminant... OMIM:308240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... OMIM:618982
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Abnormal circulat... ORPHA:829
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... OMIM:615559
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Myocarditis, B l... ORPHA:2442
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulmonary infection... ORPHA:486
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Pulmonary ... OMIM:619644
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Secundum atrial septal defect, ... OMIM:611926
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... ORPHA:169160
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Congenital Enterovirus Infection
Skin rash, Hyperammonemia, Leukocytosis, Sepsis, Leukopenia, Myocarditis, Hypotension, Abnormal m... ORPHA:292
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... OMIM:601457
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Pulmonary embolism, Autoimmune thrombocytopenia, Cerebral ischemia, M... ORPHA:3325
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... ORPHA:36234
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Pneumoni... ORPHA:276
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Failure to thrive, Decreased circulating IgA level, Recurrent... ORPHA:275
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Dec... OMIM:243700
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Chronic oral candidiasis, Chronic decreased cirulat... OMIM:615607
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Arrhythmia, Endocarditis, Myocarditis, Hypotensi... ORPHA:549
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... OMIM:619510
Q Fever
Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss, Increased circulating... ORPHA:781
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Complete or near-com... OMIM:610163
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... OMIM:619924
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... OMIM:617744
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... ORPHA:331206
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... OMIM:616740
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... OMIM:616098
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... ORPHA:464343
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Whim Syndrome 2
Severe infection, Chronic neutropenia, Recurrent gingivitis OMIM:619407
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... OMIM:618261
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Telangiectases of the cheeks, Decreased circulating total IgM, Recurrent upper respiratory tract ... OMIM:615139
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Elevated circulating creatine kinase concentration, Myosit... ORPHA:81
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent opportunistic infections, B lymphocy... ORPHA:35078
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pneumonia, Knee... ORPHA:1304
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Recurrent ... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Inflammation of the large intestine, T lymphocytopenia, ... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Wiskott-Aldrich Syndrome
Melena, Sepsis, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed... OMIM:301000
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Palpitations, Elevated circulating creatine kinase concentration, ... ORPHA:206569
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:618048
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Hypoxemia, Nonproductive cough, R... ORPHA:723
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Ab... ORPHA:3099
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Thrombocytopenia, Cyclic
Abnormal bleeding, Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent infections OMIM:610680
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Inflammation of the large in... OMIM:615767
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, S... OMIM:616100
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233690
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Sepsis, Lympha... ORPHA:31205
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... ORPHA:1302
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Recurrent lower r... OMIM:612541
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
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
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, Myocarditis, Hepatitis... ORPHA:139402
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Whipple Disease
Splenomegaly, Anemia, Cachexia, Myositis, Myocarditis, Arthritis, Hypotension, Myocardial infarct... ORPHA:3452
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Reticular Dysgenesis
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... ORPHA:33355
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Crohn's disease, Decreased circulating IgG level, Tricuspid regur... OMIM:619705
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Decreased DLCO, Thrombocytopenia, Dyspnea, Anemia, Bone-mar... OMIM:607616
Shigellosis
Splenic abscess, Acute colitis, Leukocytosis, Hypovolemic shock, Sepsis, Peritonitis, Abscess, My... ORPHA:810
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Hypocalcemia, Pancreatitis, Leu... ORPHA:544482
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Transient ischemic attack, Abnormal pericardium morphology, Skin rash, Recurrent intra... ORPHA:183
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Scleroderma
Keratitis, Transient ischemic attack, Osteomyelitis, Intestinal bleeding, Raynaud phenomenon, Rig... ORPHA:801
American Trypanosomiasis
Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Infectious encephalitis, Cardiomyopathy, Conges... ORPHA:3386
Scrub Typhus
Skin rash, Splenomegaly, Hypotension, Myocarditis, Anterior uveitis, Meningitis, Infectious encep... ORPHA:83317
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody ... OMIM:616576
Thymic Aplasia
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... ORPHA:83471
Systemic Capillary Leak Syndrome
Pancreatitis, Leukocytosis, Arrhythmia, Myocarditis, Pericarditis, Hypotension, Weight loss ORPHA:188
Omenn Syndrome
Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Recurrent bacterial infections, Hypop... OMIM:603554
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Mixed Connective Tissue Disease
Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Arthritis, Keratoconjuncti... ORPHA:809
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Microsporidiosis
Keratitis, Pancreatitis, Sepsis, Lymphadenitis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... ORPHA:2552
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Sepsis, Eczema, Chronic sinu... ORPHA:443811
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Lymphopenia, Skin rash, Leukocytosis, Macu... ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hemothorax, Myocarditis, Thrombocytope... ORPHA:99827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Recur... OMIM:600802
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... OMIM:209950
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
Slc35A1-Cdg
Respiratory distress, Neutropenia, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrha... ORPHA:238459
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Listeriosis
Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Septic arthritis, U... ORPHA:533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Refractory Anemia
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Erythro... ORPHA:98826
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Felty Syndrome
Sinusitis, Splenomegaly, Anemia, Sepsis, Recurrent urinary tract infections, Chronic otitis media... ORPHA:47612
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... OMIM:147060
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Sple... OMIM:615122
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Decreased circulating antibody level, Recurrent infections ORPHA:99811
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Recurrent abscess formation, B... ORPHA:2038
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... ORPHA:31824
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Skin rash, Reduced natural killer ... OMIM:603553
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Splenomegaly, Granuloma, Recurrent Klebsiella infections, Re... OMIM:306400
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Cerebral hemorrhage, Panuveitis, Optic neuritis, ... OMIM:301081
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent bacterial infectio... OMIM:116920
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... ORPHA:231111
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity OMIM:605309
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... OMIM:618935
Systemic Sclerosis
Telangiectasia, Osteomyelitis, Intestinal bleeding, Recurrent skin infections, Raynaud phenomenon... ORPHA:90291
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Specific Granule Deficiency 2
Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurrent pneumonia, Recur... OMIM:617475
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:615934
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, B... ORPHA:101096
Wiskott-Aldrich Syndrome, Autosomal Dominant
Otitis media, Eczema, Decreased mean platelet volume, Pneumonia, Large vessel vasculitis, Abnorma... OMIM:600903
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... ORPHA:33110
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Zygomycosis
Melena, Pancreatitis, Gastritis, Acute infectious pneumonia, Hematochezia, Myocarditis, Gastroint... ORPHA:73263
Immunodeficiency 23
Vasculitis in the skin, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster... OMIM:615816
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Pustule, Vasculitis in the skin, Skin rash... ORPHA:50918
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Hermansky-Pudlak Syndrome 2
Periodontitis, Chronic oral candidiasis, Recurrent bacterial infections, Reduced natural killer c... OMIM:608233
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Simple Cryoglobulinemia
Abnormal heart morphology, Viral hepatitis, Nephritis, Raynaud phenomenon, Complement deficiency,... ORPHA:91139
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Kawasaki Disease
Cheilitis, Skin rash, Double outlet right ventricle with subpulmonary ventricular septal defect w... ORPHA:2331
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... OMIM:214500
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Respiratory fail... ORPHA:90060
Acute Promyelocytic Leukemia
Petechiae, Neutropenia, Bruising susceptibility, Leukocytosis, Abnormal bleeding, Leukopenia, Ora... ORPHA:520
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Nephritis,... OMIM:603909
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Abnor... ORPHA:75564
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... ORPHA:133
Idiopathic Aplastic Anemia
Neutropenia, Retinal hemorrhage, Gingival bleeding, Ecchymosis, Recurrent infections, Pancytopeni... ORPHA:88
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal bleed... ORPHA:91547
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... ORPHA:79124
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 58
Onychomycosis, Colitis, Eczema, Recurrent upper respiratory tract infections, Chronic otitis medi... OMIM:618131
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Cerebral hemorrhage, Decreased circulating total IgM, Hyperte... OMIM:182410
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... OMIM:612840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... ORPHA:231154
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Abnormal cytokine signaling, Hemophagocytosis, Seve... ORPHA:158048
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections OMIM:612783
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Sepsis, Recurr... OMIM:602450
Aspergillosis
Asthma, Sinusitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Chronic pulmonary obs... ORPHA:1163
Thymic Tumor
Pericarditis, Cardiac arrest, Dysgammaglobulinemia ORPHA:100100
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Scedosporiosis
Unusual skin infection, Opportunistic fungal infection, Unusual CNS infection, Osteomyelitis, Sin... ORPHA:449280
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Decreased circulating IgA level, Abnormal T cell morphology, Small for gestational... OMIM:215250
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Abnormal aortic valve morphology, Myocarditis, Arthritis, ... ORPHA:728
Dermatomyositis
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... ORPHA:221
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Pericarditis, Hyperten... ORPHA:767
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:617388
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally l... OMIM:242700
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom... OMIM:301078
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:617062
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... ORPHA:3342
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circu... OMIM:242860
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... OMIM:603585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis... OMIM:226300
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Abnormal bleeding, Leukopenia, Abnormal macro... ORPHA:507
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Intestinal bleeding, Reduced circulating transferrin concentrati... ORPHA:90363
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Sinusitis, Lymphopenia, Skin rash, Splen... OMIM:617591
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration... OMIM:618213
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Hereditary Folate Malabsorption
Failure to thrive, Cheilitis, Megaloblastic anemia, Eosinophilia, Recurrent urinary tract infecti... ORPHA:90045
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Abnormal mucociliary clearance, Splenomega... ORPHA:90051
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, L... OMIM:208900
Vici Syndrome
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Left ventricular... OMIM:242840
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Juvenile rheumato... ORPHA:85414
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, Vasculitis in the skin, B lymph... OMIM:619381
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis ORPHA:98848
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Polymyositis
Abnormal mitral valve morphology, Elevated circulating creatine kinase concentration, Arrhythmia,... ORPHA:732
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small ... ORPHA:86816
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... ORPHA:1930
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hypersplenism, Uveitis, Bone marrow hypoc... ORPHA:3261
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Decreased circulating IgG level, Recurrent infections, Neutropenia OMIM:608809
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Decre... ORPHA:449395
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... ORPHA:542323
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:586
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Leukopenia, Increased circulating IgG level, Vasculitis, Incr... ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Skin rash... OMIM:617099
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... OMIM:152700
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Spleno... ORPHA:729
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Bronchiectasis, Sepsis, Recurrent upper respiratory tract infections, Severe B... ORPHA:293978
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Shock, Hypoalbuminemia, Neutropenia OMIM:600351
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Conjunctival telangiectasia, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 47
Failure to thrive, Tricuspid regurgitation, Splenomegaly, Decreased circulating total IgA, Decrea... OMIM:300972
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk... ORPHA:2968
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:620040
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Aicardi-Goutieres Syndrome 9
Failure to thrive, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tr... OMIM:619487
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Recurrent skin infections, Sepsis, Recurrent upper respiratory tract... OMIM:233600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Pneumonia, Fail... ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Orchitis, Skin rash, Splenomegaly, Leukocy... ORPHA:32960
Riddle Syndrome
Telangiectasia, Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, E... ORPHA:420741
Common Variable Immunodeficiency
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Vascu... ORPHA:1572
Whim Syndrome
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent upper respiratory tract infections... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Elevated circula... OMIM:614576
Von Hippel-Lindau Disease
Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Myocarditis, Myocardi... ORPHA:892
Marburg Hemorrhagic Fever
Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration, Uveitis, Pe... ORPHA:99826
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Sepsis, Recurrent bacterial infec... ORPHA:811
Wiskott-Aldrich Syndrome
Sepsis, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recur... ORPHA:906
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... ORPHA:169105
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Fulminant hepatitis, Scleros... ORPHA:2137
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Recurrent respiratory inf... OMIM:615758
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Coccidioidomycosis
Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Coccidioidal meningitis, O... ORPHA:228123
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Pulmonary venous hypertension... ORPHA:3202
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Abnormal pericardium morphology, Leukocytosis, Anemia, Constrictive pericarditis, ... ORPHA:67
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Prolonged bleeding time, Microcytic anemia, Intern... ORPHA:90308
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... ORPHA:284227
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... ORPHA:66628
Familial Mediterranean Fever
Crohn's disease, Elevated circulating C-reactive protein concentration, Orchitis, Elevated circul... OMIM:249100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
African Trypanosomiasis
Keratitis, Optic neuritis, Splenomegaly, Iritis, Hepatosplenomegaly, Arrhythmia, Myelitis, Myocar... ORPHA:3385
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine k... OMIM:613327
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Pericarditis, Arthri... OMIM:617321
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Recurrent upper respiratory tract infection... ORPHA:179494
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Pericardial ... OMIM:212065
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... ORPHA:54251
Granulomatosis With Polyangiitis
Angina pectoris, Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis medi... ORPHA:900
Mirage Syndrome
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Leukopen... OMIM:617053
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Elevated circulating C-reactive... ORPHA:93672
Angiostrongyliasis
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... ORPHA:74
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, T... ORPHA:75249
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Arrhythmia, Myocarditis ORPHA:93317
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Abnormal T-wave, Reduc... ORPHA:70591
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Hepatitis, Hypersplenism, Hashimoto thyroiditis, P... OMIM:613385
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Myotonic Dystrophy 2
Decreased circulating IgG level, Premature ventricular contraction, Decreased circulating total I... OMIM:602668
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Intraalveol... OMIM:610913
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Dyspnea, Anemia, Thrombocytopenia OMIM:246400
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Spleno... OMIM:612852
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function, Decreased serum zinc OMIM:201100
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arrhythmia, Vasculitis, Arthritis, Uveitis, Incr... ORPHA:727
Insulin-Resistance Syndrome Type B
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Abno... ORPHA:2298
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Nocardiosis
Keratitis, Cutaneous abscess, Unusual CNS infection, Osteomyelitis, Thyroiditis, Severe infection... ORPHA:31204
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hypoxemia, Raynaud phenomenon, Crackles, Decreased DLCO, Wheezing,... ORPHA:79128
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Facial telangiectasia in butter... OMIM:210900
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Decreased D... ORPHA:199241
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Cardiogenic Shock
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... ORPHA:97292
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Spastic Paraplegia Type 2
Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Sickle Cell Anemia
Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolytic anemia, Target cells, Incre... OMIM:603903
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Splenomegaly, Leukocytosis, Recurrent bacterial infections, Elevated circulating... OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Elevated alpha-fetoprotein, Conjunctival telangiectasia, Facial ... OMIM:208910
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... ORPHA:117
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Anemia, Hyperproteinemia, Increased circulating Ig... ORPHA:29073
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level, Vacuolated lymphocytes, Spl... OMIM:248500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Arrhythmia, Myocarditis, Atrial septal defect OMIM:250220
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Tick-Borne Encephalitis
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko... ORPHA:297
Rift Valley Fever
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Retinal hemorrhage, Severe viral... ORPHA:319251
Pericardial Effusion, Chronic
Polycythemia, Pericardial effusion, Constrictive pericarditis OMIM:260900
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating IgA lev... OMIM:260920
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... ORPHA:470
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Elevated circulating C-reactive protein concentration, Lymphopenia, ... OMIM:619573
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Anemia, Leukopenia, Purpura, Neutropenia, Microangiopa... ORPHA:2330
Reactive Arthritis
Osteomyelitis, Pustule, Recurrent urinary tract infections, Inflammation of the large intestine, ... ORPHA:29207
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defect, Lymphopen... OMIM:620005
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Eczema, Macrocytic anemia, Iron... OMIM:212750
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Supraventricular arrhythmia, Neutrophilia, Vasculitis in the skin, Transien... ORPHA:3260
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Recurrent infections, Neutropenia OMIM:258360
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Atrial septal defect, Left vent... ORPHA:79330
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Syncope, Heart murmur,... ORPHA:275766
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Abnormal lymphocyte physiology, Impaired T cell function, Recurrent... ORPHA:1830
Leukocyte Adhesion Deficiency Type Ii
Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Recurrent... ORPHA:99843
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections, Splenomegaly ORPHA:36412
Primary Sjögren Syndrome
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Increased circula... ORPHA:289390
Yellow Fever
Supraventricular arrhythmia, Increased circulating interleukin 6 concentration, Hematemesis, Exce... ORPHA:99829
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Nephritis, Comple... ORPHA:449427
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344