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

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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
Hypomagnesemia, Hypocalcemia OMIM:602014
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increa... OMIM:601859
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Nephrotic syndrome, Smooth muscle antibody positivity, ... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
C1Q Deficiency
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity OMIM:613652
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... OMIM:209950
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Immunodeficiency 36
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Sple... OMIM:616005
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... OMIM:619773
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... ORPHA:277
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elev... OMIM:308240
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, Skin rash, Lympho... OMIM:615934
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Hepatomeg... OMIM:617388
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Renal... OMIM:613779
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Decreased circulating IgE, Decreased circulating... OMIM:308230
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune th... OMIM:304790
Immunodeficiency 18
Lymphopenia, Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Recurr... OMIM:615615
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... ORPHA:37748
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,... ORPHA:2442
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... OMIM:619924
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Short stature, De... OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... ORPHA:562639
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... ORPHA:91139
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Growth delay, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema... OMIM:243700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l... ORPHA:169079
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu... OMIM:152700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Short stature OMIM:208600
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... ORPHA:572
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Skin rash, Leukocytosis, Elevated circulating C-re... OMIM:617099
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 23
Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Increa... OMIM:615816
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... ORPHA:37042
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... ORPHA:275
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... ORPHA:2688
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, H... OMIM:616100
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Leukopenia, Increased circulating IgG level, Elevated hepatic... ORPHA:83313
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermatophytosis, Abno... OMIM:212050
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Primary Biliary Cholangitis
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Hepatic... ORPHA:186
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Short stature, Chronic otitis media, Arthritis, Hepatitis, A... ORPHA:47
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity OMIM:216950
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom... OMIM:301078
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... OMIM:619510
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,... OMIM:260920
Zika Virus Disease
Intrauterine growth retardation, Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infecti... ORPHA:448237
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... OMIM:607665
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenom... OMIM:619858
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent skin inf... OMIM:619752
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Hematuria, Inc... ORPHA:48435
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Recurrent otitis media OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Decreased serum complement factor B, Nephritis, Increased circulati... ORPHA:2298
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Short stature, T lymphocytopenia, Increased circulati... OMIM:242860
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
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
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... OMIM:619644
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Disproportionat... ORPHA:1830
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Q Fever
Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuria, Myocarditis, Antimi... ORPHA:781
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Systemic lupus erythematosus, Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hyp... OMIM:616871
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Elevated circulati... ORPHA:400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Rheumatoid factor positive, ... ORPHA:1304
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Short stature, Recurrent skin infections, Decreased circulating ... OMIM:617744
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocytopenia, ... ORPHA:217390
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Arthritis, Cre... OMIM:616414
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... OMIM:243150
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Lymphopenia, Short stature, Neutropenia, Intrauterine growth ret... OMIM:616395
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:615577
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... OMIM:616576
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:147060
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Short st... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Autoimmun... ORPHA:2902
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Leukopenia, Rhizomelia, Decreased circulating antibody level, Bone marrow ... OMIM:618116
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent urinary tract infections, Panhypogammaglobulinemia, Biliary t... OMIM:209920
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Systemic Lupus Erythematosus 17
Optic neuritis, Systemic lupus erythematosus, Lymphopenia, Decreased serum complement C3, Decreas... OMIM:301080
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Increased circulating IgE l... OMIM:618985
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Mac... OMIM:617303
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune... ORPHA:227990
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Short stature, Proteinuria, Glomerular sclerosis, Intrauterine growth retarda... OMIM:301006
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Inflammation of the large intestine, T lymphocytopenia, B lymphocytopenia, ... OMIM:618108
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... ORPHA:470
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomati... ORPHA:343
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3, Microscopic hematuria, Autoimmunity, Proteinuria, G... ORPHA:79087
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Antineutrophil antibody positivity, Hepatospleno... ORPHA:99931
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, Panhypogammaglobulinemia, T lympho... OMIM:601457
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Increased circulating... ORPHA:79078
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Abnormality of neutrophils, Hepatitis, Dec... ORPHA:381
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Pruritus, Erythroderma, Increased circulating IgE level OMIM:270300
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune... ORPHA:227982
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus, Hepatomegaly, Splenomegaly, E... OMIM:170100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Reticular Dysgenesis
Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Decreased circulating an... ORPHA:33355
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatit... OMIM:618999
Immunodeficiency 31C
Lymphopenia, Short stature, Eczema, Autoimmunity, Chronic mucocutaneous candidiasis, Delayed pube... OMIM:614162
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Splenomegaly, Leu... ORPHA:829
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... ORPHA:2643
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytos... ORPHA:3392
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Short stature, Proteinuria, Macronodular cir... OMIM:215250
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity, Skin rash OMIM:618795
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... OMIM:616740
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po... ORPHA:49041
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... ORPHA:83471
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... ORPHA:567548
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... OMIM:251190
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bacterial Toxic-Shock Syndrome
Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myelocyte count, Osteomy... ORPHA:36234
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Short stature, Enteroviral hepatitis, Recurrent urinary tract i... OMIM:307200
Primary Sjögren Syndrome
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Increased circula... ORPHA:289390
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Rift Valley Fever
Skin rash, Increased circulating IgG level, Hematuria, Elevated hepatic transaminase, Hepatitis, ... ORPHA:319251
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Short stature OMIM:615139
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Acute pan... ORPHA:319218
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... ORPHA:29073
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, Decreased circulating antibody level, Pneumonia OMIM:614069
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Short stature, Abnormal lymphocyte morphology, Arthritis, Abn... ORPHA:229717
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... ORPHA:499
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Short stature, Hepatitis, Autoimmuni... OMIM:613385
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity, Abnormal lactate... ORPHA:98827
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... OMIM:618213
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Short stature, Eczema, Lymphadeni... OMIM:618935
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, Eczema, Ig... OMIM:618348
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Decreased serum complement C3, Anemia, Dec... ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Arteritis, Macro... ORPHA:93126
Complement Factor I Deficiency
Decreased serum complement factor H, Decreased serum complement factor B, Decreased serum complem... OMIM:610984
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Tempi Syndrome
Increased hematocrit, Abnormality of the kidney, Polycythemia, Increased circulating IgG level ORPHA:284227
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Abnormality of the kidney, Eosinophilia, Hepatitis, Infectio... ORPHA:1163
Coccidioidomycosis
Pancreatitis, Abscess, Pneumonia, Pruritus, Pericarditis, Osteomyelitis, Peritonitis, Increased c... ORPHA:228123
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Acute he... ORPHA:228426
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Roifman Syndrome
Short stature, Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Re... ORPHA:353298
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol... ORPHA:93552
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Eosinophilopenia
Allergic rhinitis, Autoimmunity, Decreased eosinophil count OMIM:131430
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the large in... OMIM:608809
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Lupus anticoagulant, Antinuc... OMIM:616744
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... OMIM:618204
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Systemic lupus... ORPHA:101330
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Otitis media, Splenomegaly, Aplasia of the thymus, Eosinophilia, Abnor... OMIM:602450
Immunodeficiency 17
Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased... OMIM:615607
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti-thyroid perox... ORPHA:64744
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Lassa Fever
Oliguria, Jaundice, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... ORPHA:139402
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Renal hypoplasia, Proteinuria, G... OMIM:614376
Spondyloenchondrodysplasia
Chronic kidney disease, Systemic lupus erythematosus, Skin rash, Short stature, Juvenile rheumato... ORPHA:1855
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Panhypogammaglobu... OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hemophagocytosis, Skin rash... OMIM:603552
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Postnatal... OMIM:615190
Netherton Syndrome
Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Increased ci... OMIM:256500
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Adamantinoma
Hypercalcemia ORPHA:55881
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr... OMIM:619693
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Myelitis, Increa... ORPHA:297
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Splenomega... OMIM:617591
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly ORPHA:228312
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia, Short stature OMIM:618165
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Leukocytosis, Pancrea... ORPHA:99829
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Hepatic failure, Leukopenia, Myocarditis, Abnormal macrophage morphology... ORPHA:292
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Elevated circulating C-reactive protein concentration, Comple... ORPHA:449427
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Skin rash, Splenomegaly, Hepatospleno... OMIM:618963
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Heparan sulf... ORPHA:505248
Rasmussen Subacute Encephalitis
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Glomerular sclerosis OMIM:619428
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m... OMIM:615688
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Felty Syndrome
Sinusitis, Hepatomegaly, Splenomegaly, Anemia, Recurrent urinary tract infections, Chronic otitis... ORPHA:47612
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Elevated circulating C-reactive protei... ORPHA:449563
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... OMIM:619381
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hematuria, Myocarditis, Epididymitis... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Pruritus, Erythroderma, Abnormal lymph... ORPHA:3162
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr... ORPHA:90363
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Systemic Sclerosis
Anti-centromere antibody positivity, Chronic kidney disease, Osteomyelitis, Anti-topoisomerase I ... ORPHA:90291
Immunodeficiency 58
Dysuria, Colitis, Short stature, Eczema, Chronic otitis media, Decreased specific antibody respon... OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally low T cell recept... OMIM:242700
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Short stature, Acne inversa... OMIM:233600
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... OMIM:618282
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni... OMIM:614379
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia ORPHA:100025
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Abnormality of the kidney, Elevat... ORPHA:275555
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Pruritus, Atopic dermatitis ORPHA:90368
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Netherton Syndrome
Aminoaciduria, Skin rash, Short stature, Eczema, Decreased circulating antibody level, Ectopic ki... ORPHA:634
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepatitis, Infecti... ORPHA:549
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Pruritus ORPHA:89843
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... ORPHA:77259
Vexas Syndrome
Nasal chondritis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein c... OMIM:301054
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... OMIM:604416
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Immunodeficiency 7
Autoimmunity, Hypereosinophilia OMIM:615387
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Thymic Tumor
Pericarditis, Autoimmunity, Dysgammaglobulinemia ORPHA:100100
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Lambert Syndrome
Intrauterine growth retardation, Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decrease... ORPHA:1296
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Anemia, Decrea... ORPHA:90060
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent skin infections, Antineutrophil antibody positivity, Eosino... ORPHA:486
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple... OMIM:618042
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:79303
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentration, Fluctuating sple... OMIM:610377
Bloom Syndrome
Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, Abnormal proportion ... ORPHA:125
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains OMIM:610448
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level ORPHA:2571
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Pruritus, Increased circula... ORPHA:2314
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Short s... OMIM:208900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Autoimmunity, Pancy... OMIM:618398
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Hepatic failure, Maculopapular exanthema, Apl... ORPHA:398124
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Severe postnatal growth retardation, Rheumatoid arthritis, Abnormal circulating i... ORPHA:85410
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Short stature, Eczema, Macrocytic anemia, Iron deficiency anemia... OMIM:212750
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Intrauterine ... OMIM:615846
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Leukocytosis, Art... OMIM:611762
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Avian Influenza
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Elevated circulat... ORPHA:454836
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Urinary retention, Panhypogammaglobulinemia, T lymphocytopenia,... ORPHA:79124
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Acquired Ichthyosis
Autoimmunity, Renal insufficiency, Pruritus, Recurrent skin infections ORPHA:454
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Eczema, Intrauterine growth retardation OMIM:233810
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia OMIM:605309
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Chronic kidney disease, Decreased urine output... ORPHA:340
Common Variable Immunodeficiency
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Chilblains OMIM:610329
Cryoglobulinemic Vasculitis
Viral hepatitis, Circulating immune complexes, Hepatomegaly, Splenomegaly, Cryoglobulinemia, Hema... ORPHA:91138
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... ORPHA:85414
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... ORPHA:79099
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Bloom Syndrome
Intrauterine growth retardation, Decreased circulating IgA level, Growth delay, Decreased circula... OMIM:210900
Japanese Encephalitis
Infectious encephalitis, Increased circulating antibody level, Neutrophilia, Increased circulatin... ORPHA:79139
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Inflammatory a... OMIM:609628
Graft Versus Host Disease
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, He... ORPHA:39812
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Arthritis, Uveiti... OMIM:120100
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Short stat... OMIM:619750
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Lymphatic Filariasis
Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstruction, Abnormality of ... ORPHA:2035
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... ORPHA:169105
Ataxia-Telangiectasia
Lymphopenia, Short stature, Elevated hepatic transaminase, Decreased circulating antibody level, ... ORPHA:100
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Alveolar Echinococcosis
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... ORPHA:284
Liver Failure, Infantile, Transient
Hepatomegaly, Decreased circulating IgG level, Microvesicular hepatic steatosis, Acute hepatic fa... OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Skin rash, Splenome... OMIM:603553
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Hematuria, Arthritis, Uveitis, Auto... ORPHA:36412
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Decreased circulating IgG lev... OMIM:620005
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... OMIM:613812