Gene Summary

Name:
interferon induced with helicase C domain 1
Synonyms:
9130009C22Rik,  MDA-5,  Helicard,  MDA5

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
increased circulating magnesium level Ifih1em1(IMPC)Wtsi HOM Early adult 1.83×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Phenotype associated images not available

Human diseases caused by Ifih1 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 Ifih1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ifih1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc... OMIM:618048
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Increased circulat... OMIM:619220
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Rheumatoid facto... OMIM:209950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... ORPHA:98813
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Arthritis, B lymphocytopenia, Decreased circulating antibod... ORPHA:397596
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... OMIM:613495
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-rea... OMIM:308240
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Increased circulating IgG leve... OMIM:618495
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Antiphospholipid antibody positivi... OMIM:615934
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ... ORPHA:90280
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... OMIM:619773
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomega... OMIM:612783
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Systemic lupus erythematosus, Membranoproliferative glom... OMIM:613779
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cel... OMIM:304790
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:329918
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, C3 nephritic factor positivity, Glomerular subendothelial electron-dense dep... ORPHA:54370
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Schnitzler Syndrome
Hepatomegaly, Anemia, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Spleno... ORPHA:37748
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Partial absence of specific antibody response to unconjugat... OMIM:240500
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level, Periodontitis OMIM:162700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... ORPHA:562639
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... OMIM:618459
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neut... OMIM:607594
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphopenia, Splenomegaly, Systemic lupus er... ORPHA:444463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antibody positivity, Thyr... OMIM:619375
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia... OMIM:614470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Abnormality of the kidney, Chronic lymphatic leukemia, Arthritis, Mo... ORPHA:91139
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, In... OMIM:619281
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus, Abnormality of complement system OMIM:613783
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Increased circul... ORPHA:276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Sclerosing cholangitis, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Renal insufficiency, Arthritis, Skin rash, Abnorma... ORPHA:567544
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a... OMIM:618394
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-... OMIM:617099
Thymoma
Aplastic anemia, Myositis, Imbalanced hemoglobin synthesis, Decreased circulating antibody level,... ORPHA:99867
Immunodeficiency 97 With Autoinflammation
Granuloma, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Lymphopenia, ... OMIM:619802
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Macrophage Activation Syndrome
Decreased liver function, Increased circulating lactate dehydrogenase concentration, Splenomegaly... ORPHA:158061
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Decreased circulating to... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin... OMIM:619707
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Increased circulating IgG level, Skin ra... ORPHA:83313
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
C1Q Deficiency 3
Decreased circulating C1q concentration, Discoid lupus rash, Antinuclear antibody positivity OMIM:620322
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Anemia, Partial absence of specific antibody response to Haemophilu... OMIM:620632
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti... ORPHA:90283
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ... ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... OMIM:612692
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Abnormal circulating IgG level, Lymp... OMIM:616636
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Short stature, Recurrent pneumonia... ORPHA:47
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Crohn's disease, Arthritis, Decreased circulating anti... OMIM:616100
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Abnormal natural killer cell count, Abnormal prop... OMIM:212050
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,... ORPHA:169079
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Disseminated molluscum contagiosum... OMIM:617638
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Eczematoid dermatitis, T lymphocytopenia, Decreased circulating IgG le... OMIM:619510
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
Primary Biliary Cholangitis
Biliary cirrhosis, Splenomegaly, Abnormal intrahepatic bile duct morphology, Jaundice, Hepatocell... ORPHA:186
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu... OMIM:301078
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Increased circulating IgA level, Skin rash, Lymphadenitis, M... OMIM:260920
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Recurrent urinary tract infections, Short stature, De... OMIM:620210
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... OMIM:615214
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Cytoplasmic ant... ORPHA:48435
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Reduced circulating complement concentration, Nephritis, Autoimmunity OMIM:216950
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... OMIM:618282
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chilblains, G... OMIM:619858
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ... OMIM:614699
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... OMIM:619752
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Increased mean corpuscular volume, Eczema... OMIM:619774
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Decreased circulating total IgM, Neutropenia OMIM:610798
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephr... OMIM:616414
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,... OMIM:619652
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Short stature, Pne... OMIM:242860
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Skin rash, Decreased circulatin... ORPHA:2298
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei... OMIM:619644
Immunodeficiency 22
Chronic oral candidiasis, Decreased circulating total IgM, Panniculitis, Decreased circulating Ig... OMIM:615758
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Lymphopenia, Intrauterine growth ret... ORPHA:1830
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
C1Q Deficiency 2
Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentration, Decreased ... OMIM:620321
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circulating IgG ... OMIM:614069
Whim Syndrome 1
Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:114580
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto... ORPHA:2902
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Inc... ORPHA:400
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Increased circulating IgE level, Megaloblastic anemia... OMIM:620603
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc... OMIM:243150
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Decreased circulating antibody level, Eczematoid dermatitis, Short stature, B... OMIM:618116
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Short stature, Lymphopenia, Intrauterine growth retardation, Neu... OMIM:616395
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczematoid dermatitis, Bone marrow hypocellularity, Le... OMIM:616871
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Monocytopenia, E... OMIM:226990
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Myelitis, Malar rash, Optic neuritis, Anti-aqu... OMIM:301080
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Short stature, Growth delay, Intrauterine growth retardatio... OMIM:617744
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... ORPHA:1304
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Neutropenia, A... OMIM:613501
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ... OMIM:615577
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic m... OMIM:209920
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short ... OMIM:301006
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Bence Jones Proteinuria, Increased circulating antibody level, Splenomegaly... ORPHA:100024
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Intrauterine grow... OMIM:620376
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri... ORPHA:183675
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent... OMIM:616576
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Increased circulating antib... ORPHA:470
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Eczematoid dermatitis, Hyperimidodipe... OMIM:170100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Postnatal growth retardation, Thyroiditis, Increased circulating IgE level, Ecze... OMIM:618985
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Focal segmental glomerul... OMIM:617303
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA level, Growth d... ORPHA:343
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocytopenia, Decrea... OMIM:619705
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Griscelli Syndrome
Jaundice, Hepatomegaly, Decreased circulating antibody level, Short stature, Bone marrow hypocell... ORPHA:381
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer... ORPHA:90003
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... ORPHA:79078
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Glomerulopathy, Lymphocytosis, Microscopic hem... ORPHA:79087
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Prostatitis, Increased circulating antibody level, Cholangitis, Abnorm... ORPHA:449432
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ... OMIM:301081
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Abnorm... ORPHA:33355
Peeling Skin Syndrome 1
Increased circulating IgE level, Short stature, Erythroderma, Eosinophilia, Pruritus OMIM:270300
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:608709
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinem... OMIM:307200
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Elevated circulating hepatic transami... ORPHA:507
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Severe short stature, Intrauterine growth retardation, Decreased... ORPHA:2643
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Short stature, Hepatosple... OMIM:618999
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Molluscum ... OMIM:300291
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Recurrent urinary tract infections, ... ORPHA:83471
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... ORPHA:171
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Hepatoc... OMIM:300755
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Short stature, Macronodula... OMIM:215250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Juvenile Arthritis
Skin rash, Thrombocytosis, Antinuclear antibody positivity, Leukocytosis OMIM:618795
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Renal tubular epithelial necrosis, Psoriasiform... ORPHA:49041
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Leukopenia, Thrombocytopenia, Lymphopen... ORPHA:319218
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Short stature, Hashimoto thyroiditis, Splenomega... OMIM:613385
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D... OMIM:614878
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lupus nephritis, Anti-U1... ORPHA:536
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Rift Valley Fever
Jaundice, Hematuria, Anemia, Elevated circulating hepatic transaminase concentration, Increased c... ORPHA:319251
Aspergillosis
Abnormality of the kidney, Increased circulating IgE level, Bronchiectasis, Sinusitis, Osteomyeli... ORPHA:1163
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Elevated circulating hepatic transaminase co... ORPHA:540
Multiple Myeloma
Acute kidney injury, Anemia, Increased circulating IgG level, Abnormality of the bladder, Increas... ORPHA:29073
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum... ORPHA:36234
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re... OMIM:618176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part... OMIM:618261
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Short stature OMIM:615139
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Abnormal circula... ORPHA:98827
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Hypospadias, Decreased circulating antibody l... OMIM:616910
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Skin rash, Short sta... OMIM:616050
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Lymphopenia, Thyroiditis, Renal artery stenosis, Short stature, Renovascular hyp... ORPHA:391487
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Eleva... ORPHA:829
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Immunodeficiency 9
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... OMIM:612782
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Neutropenia in pres... ORPHA:228426
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Rheumatoid factor positive,... OMIM:618935
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Abnormal immunoglobulin level, Short sta... OMIM:618752
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T... OMIM:608971
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria,... ORPHA:69126
Coccidioidomycosis
Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the kidne... ORPHA:228123
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... ORPHA:101330
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Lupus anticoagulant, Hematuria, Elevated circu... ORPHA:231111
Tempi Syndrome
Increased circulating IgG level, Abnormality of the kidney, Polycythemia, Increased hematocrit ORPHA:284227
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Lympho... ORPHA:139402
Netherton Syndrome
Increased circulating IgE level, Hypereosinophilia, Chronic rhinitis, Eczematoid dermatitis, Decr... OMIM:256500
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Re... OMIM:256040
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Increased circulating lactate dehydrogenase concentration, Leukope... ORPHA:93552
Lassa Fever
Oliguria, Increased circulating IgM level, Jaundice, Conjunctivitis ORPHA:99824
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Roifman Syndrome
Postnatal growth retardation, Recurrent otitis media, Decreased circulating antibody level, Eczem... ORPHA:353298
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Skin rash, Lymphopenia, Antinuclear antibody positivity, Thrombocytopenia, A... OMIM:616744
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circul... OMIM:615122
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA a... ORPHA:1855
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:615190
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Rhizomelia, Short stature, Renal hypoplasia, Proteinuria, S... OMIM:614376
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre... OMIM:615207
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Abnormally low T cell receptor excision circle level, Inc... OMIM:602450
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid... ORPHA:64744
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Increa... OMIM:615010
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Perinucle... ORPHA:60
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase,... ORPHA:98848
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Growth delay, Proteinuria, Glomerulonephritis OMIM:619428
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Conj... OMIM:603552
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomega... OMIM:618963
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Panniculitis, Increased circulating antibody level, Anemia, Elevated circulating he... OMIM:617591
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat... ORPHA:297
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati... ORPHA:292
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Decre... ORPHA:90362
Yellow Fever
Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Skin rash, Anur... ORPHA:99829
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen... OMIM:275350
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo... ORPHA:1929
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Increased circulating I... ORPHA:505248
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re... ORPHA:449427
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Gaucher Disease Type 1
Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Pancytopenia, Sp... ORPHA:77259
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Growth delay, Splenomegaly ORPHA:100025
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Decre... OMIM:614379
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Hematuria, Anemia, Antiphospholipid antibody p... ORPHA:90060
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ... OMIM:615688
Systemic Sclerosis
Anti-RNA-polymerase-III-autoantibody positivity, Myocarditis, Abnormality of the kidney, Acute ki... ORPHA:90291
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... OMIM:242700
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Reduced circulating transferrin concentration, D... ORPHA:90363
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Elevated circulating hepatic tr... OMIM:614576
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Hematuria, Renal insufficiency, Bone marrow hypocellularity,... ORPHA:549
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly, Erythr... ORPHA:3162
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Netherton Syndrome
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Skin rash,... ORPHA:634
Crimean-Congo Hemorrhagic Fever
Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Erythema nod... ORPHA:99827
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactiv... ORPHA:449563
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched me... OMIM:233600
Avian Influenza
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myelitis, Elevated ... ORPHA:454836
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hype... OMIM:615387
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Pruritus, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Arthritis, Recurrent urinary tract infections, Abnorm... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammag... OMIM:600802
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Pruritus ORPHA:89843
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Giant cell hepatitis, Elevated circulating hepatic transaminase con... ORPHA:79303
Riddle Syndrome
Short stature, Decreased circulating IgG level OMIM:611943
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase co... OMIM:610377
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Elevated circulating hepatic transaminase concentr... OMIM:212750
Wilson Disease
Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:905
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating Ig... OMIM:208900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Unilateral renal agenesis, Arthritis, ... ORPHA:221139
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia, Decreased circulating antibody level, Choles... ORPHA:1296
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Leukemia, ... ORPHA:486
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Arthritis, Skin rash, C... OMIM:615846
Bloom Syndrome
Cheilitis, Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Severe postnatal... ORPHA:125
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Decreased circulating antibody level, Leuk... OMIM:618042
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthritis, ... OMIM:604416
Gaucher Disease
Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Polyclonal eleva... ORPHA:355
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Hypokalemia ORPHA:358
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Increased circulating antibody level, Decreased glomerular fil... ORPHA:91500
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level ORPHA:2571
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Increased circulating IgE level, Skin rash, Eczematoid dermatitis, Pruritus... ORPHA:2314
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Increased circulating IgE level ORPHA:1858
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Arthritis, ... OMIM:611762
Omenn Syndrome
Hepatomegaly, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Ne... ORPHA:39041
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Vexas Syndrome
Nasal chondritis, Arteritis, Elevated circulating C-reactive protein concentration, Macrocytic an... OMIM:301054
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Circulating immune complexes, Arthritis, Viral hepatitis... ORPHA:91138
Bloom Syndrome
Postnatal growth retardation, Malar rash, Growth delay, Decreased circulating IgG level, Elevated... OMIM:210900
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Elevated circulating hepat... ORPHA:79124
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Autoimmunity, Increased circu... OMIM:618398
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Mo... OMIM:614868
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains OMIM:610448
Acquired Ichthyosis
Autoimmunity, Renal insufficiency, Recurrent skin infections, Pruritus ORPHA:454
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
East Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia ORPHA:199343
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level, Infectious e... ORPHA:79139
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... OMIM:601495
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Decreased circulating antibody level, Short stature OMIM:613078
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Increased circulating interleukin 6 concentration, Acute tubulointerstitial ... ORPHA:340
Atelis Syndrome 1
Anemia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Bronchiectasis, Decreased lymphocyte... OMIM:620184
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency ORPHA:375
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Perica... ORPHA:85414
Lymphatic Filariasis
Abnormality of the kidney, Hematuria, Circulating immune complexes, Urethral obstruction, Knee os... ORPHA:2035
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Severe post... ORPHA:85410
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Common Variable Immunodeficiency
Chronic otitis media, Elevated circulating hepatic transaminase concentration, Decreased circulat... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transaminase concentration, Panc... OMIM:603553
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis... OMIM:607115
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Interstitial Granulomatous Dermatitis With Arthritis
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Rheumatoid art... ORPHA:79099
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Decreased circulating antibody level, Shor... OMIM:619750
Liver Failure, Infantile, Transient
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Jaundice, Macrove... OMIM:613070
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Inflammatory abnormality of the eye, Arthritis, Skin ras... ORPHA:36412
Good Syndrome