Gene Summary

Name:
mitochondrial antiviral signaling protein
Synonyms:
D430028G21Rik,  IPS-1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Mavsem1(IMPC)Mbp HOM Early adult 3.18×10-07
decreased bone mineral content Mavsem1(IMPC)Mbp HOM Early adult 9.65×10-06

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

59 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Human diseases caused by Mavs 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... OMIM:616098
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hemophagocytosis, Aplastic a... OMIM:308240
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... OMIM:269840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
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 With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... OMIM:615122
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... OMIM:209920
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, Co... OMIM:610163
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto... OMIM:300853
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, He... OMIM:300400
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections OMIM:606445
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... OMIM:243700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Osteoporosis
Osteoporosis OMIM:166710
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... ORPHA:540
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... ORPHA:37748
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... OMIM:601457
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... OMIM:619924
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C-reactiv... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... ORPHA:448237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... OMIM:603909
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Recurrent upper and lower respi... ORPHA:70593
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... OMIM:603553
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
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
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Intermittent ... OMIM:616740
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, H... OMIM:616100
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Eos... ORPHA:1163
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Decreased circulating IgG level, Cerebral atrophy, Polymicrogyria OMIM:618973
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno... ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... OMIM:618261
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, Re... OMIM:619510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoproliferativ... OMIM:615816
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Skin rash, Leukopenia, Sepsis, Cholestasis, Abnormal macrophage mor... ORPHA:292
Q Fever
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... ORPHA:781
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... ORPHA:83313
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Lymphopen... OMIM:615934
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto... OMIM:615607
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Myocarditis, Hepatitis, Recurrent ... ORPHA:549
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocyt... OMIM:608971
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recur... OMIM:233600
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Acute otitis media, Decreased lymphocyte proliferation in response to mi... ORPHA:35078
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... OMIM:600802
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... ORPHA:36234
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Hepatomeg... OMIM:617388
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, H... ORPHA:1304
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy... OMIM:619846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P... OMIM:242860
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... OMIM:301078
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Complement Component 8 Deficiency, Type I
Meningitis, Decreased serum complement C8 OMIM:613790
Wiskott-Aldrich Syndrome
Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... OMIM:301000
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent skin inf... OMIM:619752
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Tularemia
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... ORPHA:3392
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Nephritis, Recurrent bronchopulmonary infections, Splenomegaly, Brain atrophy, Leuk... OMIM:617303
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chr... OMIM:613496
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... ORPHA:3261
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... OMIM:615139
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Increased circulating IgG level, Leukocytosis ORPHA:206594
Angiostrongyliasis
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... ORPHA:74
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Recurrent respiratory infections, B lymphocytopenia, T lymphocytopenia, Inf... OMIM:618108
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Global brain atrophy, Infectious encephalitis ORPHA:363558
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abno... ORPHA:391487
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... OMIM:147060
Rift Valley Fever
Skin rash, Increased circulating IgG level, Severe viral infection, Hepatitis, Uveitis, Increased... ORPHA:319251
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections OMIM:605309
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Pancolitis... OMIM:618213
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Scrub Typhus
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis, Lymp... ORPHA:83317
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... ORPHA:507
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... OMIM:618963
Purine Nucleoside Phosphorylase Deficiency
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ... OMIM:613179
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Typhoid
Hepatomegaly, Infectious encephalitis, Skin rash, Splenomegaly ORPHA:99745
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... ORPHA:33110
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Hepatomegaly, Infectious encephalitis, Hyperammonemia ORPHA:1194
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Herpes simplex encephalitis OMIM:613002
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... ORPHA:90280
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Crigler-Najjar Syndrome
Jaundice, Infectious encephalitis, Abnormality of the liver ORPHA:205
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating... ORPHA:186
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Hepatitis... ORPHA:139402
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis, Lymphadenopathy ORPHA:3386
Whipple Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myositis, Myocarditis, Pericarditis, Art... ORPHA:3452
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom... OMIM:617591
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Myeloma, Multiple
Paraproteinemia OMIM:254500
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Recurrent i... OMIM:301045
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis OMIM:618847
Reticular Dysgenesis
Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophils, Decreased circul... ORPHA:33355
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Corpus callosum atrophy, Inf... OMIM:608809
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
X-Linked Agammaglobulinemia
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Sepsis, Abnormality of the lymphatic system, C... ORPHA:47
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... ORPHA:91139
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis OMIM:618985
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Listeriosis
Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic ar... ORPHA:533
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Paucity of anterior horn motor neurons, Menin... ORPHA:79139
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum creatinine... OMIM:617744
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent skin infections, Atrophic gastritis, Recurrent sinu... OMIM:616576
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Meningococcal Meningitis
Sepsis, Elevated circulating C-reactive protein concentration, Infectious encephalitis, Skin rash ORPHA:33475
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... ORPHA:829
Tick-Borne Encephalitis
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko... ORPHA:297
Tempi Syndrome
Increased hematocrit, Ascites, Polycythemia, Increased circulating IgG level ORPHA:284227
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal cytokine s... ORPHA:158048
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Bone Marrow Failure Syndrome 4
Leukopenia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Coccidioidomycosis
Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Coccidioidal meningitis, L... ORPHA:228123
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Hyperbilirubinemia, Cirrhosis, Sclerosing cholangitis, Increased circu... ORPHA:562639
Lassa Fever
Sepsis, Jaundice, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Cerebral Visual Impairment
Unusual CNS infection, Neurodegeneration, Meningitis, Infectious encephalitis, Central nervous sy... ORPHA:447788
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormality, Pneumonia... ORPHA:2552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu... ORPHA:79124
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Decreased circulating IgG level, Brain atrophy, Hepatosplenomegaly, Le... ORPHA:505248
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Lymph... ORPHA:449395
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc... ORPHA:229717
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:158061
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Lyme Disease
Meningitis, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasi... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin level, Pneumonia, Ecze... ORPHA:37042
Prolidase Deficiency
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Eczema, Recurrent pneumonia, Cr... OMIM:170100
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Meningitis, Recurr... OMIM:614379
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Increased circulating antibody level, Eosinophilia ORPHA:99965
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Reynolds Syndrome
Hepatomegaly, Skin rash, Cirrhosis, Arthritis, Infectious encephalitis, Keratoconjunctivitis sicc... ORPHA:779
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Eczema, Autoimmune thrombocytop... OMIM:304790
Netherton Syndrome
Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Recurrent infections, Eryt... OMIM:256500
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... ORPHA:29073
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Cysticercosis
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis ORPHA:1560
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Gm1 Gangliosidosis
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... OMIM:618935
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... OMIM:300972
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... OMIM:619693
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Mevalonic Aciduria
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... OMIM:610377
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG level, Recurrent fungal infections, Left ventr... OMIM:242840
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... OMIM:611762
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... OMIM:619381
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Nocardiosis
Keratitis, Thyroiditis, Unusual CNS infection, Osteomyelitis, Severe infection, Peritonitis, Lymp... ORPHA:31204
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Complement defic... ORPHA:449432
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Abnormal circulating fatty-acid concentration, Nephritis, Abnorm... ORPHA:2298
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Infectious encephalitis ORPHA:2481
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A... ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Pericarditis, Unusual skin infe... ORPHA:73263
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... ORPHA:51636
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... ORPHA:329918
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Felty Syndrome
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splen... ORPHA:47612
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Abnormal lymphocyte morp... ORPHA:3162
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Cerebral atrophy, Splenomega... OMIM:614576
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Nephritis, Comple... ORPHA:449427
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ... ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Elevate... OMIM:208900
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... OMIM:612260
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Jaundice, S... ORPHA:171
Yellow Fever
Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Neutrophilia, Leukocytosis... ORPHA:99829
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... ORPHA:464370
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Recu... ORPHA:33226
Cystic Echinococcosis
Increased circulating antibody level, Unusual infection, Cholestatic liver disease, Hepatomegaly,... ORPHA:400
Hartnup Disease
Infectious encephalitis, Skin rash ORPHA:2116
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Hypereosi... ORPHA:2902
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG level, Cerebral cortical atrophy, Recurrent in... ORPHA:1493
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... ORPHA:1451
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Hemoperitoneum, Myocarditis, Thrombocytopenia, Epididymitis, Pancytop... ORPHA:99827
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism, Increas... OMIM:610539
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Behçet Disease
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... ORPHA:117
Complement Factor B Deficiency
Decreased serum complement factor B, Recurrent bacterial infections, Peritonitis, Recurrent menin... OMIM:615561
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cerebral cortical atrophy, Recurrent urinary tract infections, Infectious en... ORPHA:847
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... OMIM:619313
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m... OMIM:615688
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Recurrent urinary t... ORPHA:169105
Adult-Onset Nemaline Myopathy
Mildly elevated creatine kinase, Paraproteinemia ORPHA:171442
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... OMIM:610984
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Myositis, Increased circulating IgG4 level, Retroperitoneal fibr... ORPHA:79078
Poliomyelitis
Meningitis, Absent tonsils, Myelitis, Infectious encephalitis ORPHA:2912
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Lymphopenia, Abdominal adhesions, Recurrent infections, Neutropenia OMIM:616395
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Cirr... ORPHA:90363
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Incontinentia Pigmenti
Keratitis, Cerebral cortical atrophy, Skin rash, Eosinophilia, Uveitis, Infectious encephalitis ORPHA:464
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... OMIM:620010
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... ORPHA:3226
Caffey Disease
Increased circulating antibody level ORPHA:1310
Netherton Syndrome
Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Erythroderma, Incr... ORPHA:634
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Chronic otitis media, Recurrent infections, Incre... ORPHA:2314
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Bronchiectasis OMIM:613490
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... OMIM:306400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... ORPHA:228119
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Meningitis, Lymphadenop... ORPHA:545
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... ORPHA:86816
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Brain atrophy, Hemophagocytosis, Increased proporti... ORPHA:167
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Conjugated hyperbilirubinemia,... OMIM:214900
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... OMIM:214500
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, I... OMIM:602390
Acute Disseminated Encephalomyelitis
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Disseminated viral infect... ORPHA:83597
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancrea... ORPHA:449563
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pustule, Increased red blood cell count, Infectious encephalit... ORPHA:68
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Periodontitis, Hepatomegaly, Chronic oral candidiasis, Recurren... OMIM:608233
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... OMIM:612132
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... ORPHA:231154
Igg4-Related Thyroid Disease
Hypocalcemia, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Retr... ORPHA:64744
Scedosporiosis
Unusual skin infection, Opportunistic fungal infection, Sinusitis, Osteomyelitis, Unusual CNS inf... ORPHA:449280
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Babesiosis
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infect... ORPHA:108
Nijmegen Breakage Syndrome
Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis media, Recurrent urinary tra... OMIM:251260
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:90051
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Hepatomegaly,... OMIM:615846
Chronic Granulomatous Disease
Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Sepsis, Mediastinal lymphadenopathy,... ORPHA:379
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Recurrent bacterial infections, Art... ORPHA:36412
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Compl... ORPHA:470
Primary Sjögren Syndrome
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Lymphadenopathy, ... ORPHA:289390
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Liver Failure, Infantile, Transient
Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinemia, Microvesicular hepatic steatos... OMIM:613070
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Chikungunya
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Arthritis, Infectious encephalitis,... ORPHA:324625
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Recurrent aphthous stomati... ORPHA:343
Familial Mediterranean Fever
Crohn's disease, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosi... OMIM:249100
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Recurrent viral infections, Lymphadenopathy, Reduced natural killer c... OMIM:609981
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... ORPHA:85414
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-p... ORPHA:66628
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Recurrent bacteria... OMIM:248500
Immunoglobulin A Vasculitis
Orchitis, Pustule, Skin rash, Arthritis, Infectious encephalitis, Episcleritis ORPHA:761
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis... ORPHA:99843
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-p... ORPHA:179494
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia,... OMIM:616084
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Impaired platelet agg... OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Po... OMIM:613385