Gene Summary

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

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
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... OMIM:617006
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Systemic lupus erythematosus, Neph... OMIM:613779
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Rheumatoid fact... OMIM:615934
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, ... ORPHA:555905
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Growth delay, Uveitis,... OMIM:617388
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... ORPHA:277
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Pruritis on hand, ... ORPHA:90280
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Decreased serum complement C4, Membranoproliferativ... ORPHA:329918
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenom... ORPHA:37748
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Interface hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosin... ORPHA:562639
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Autoimmunity, Autoimmune hemolytic anemia, Decreased pr... ORPHA:331206
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Growth delay, Recurrent skin infections, Short stature OMIM:617744
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Autoimmunity, Chronic otitis media, Neutropenia, Thrombocytopenia... ORPHA:47
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Growth delay,... ORPHA:169079
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased prop... ORPHA:276
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Decreased serum complement C4, Synovitis, Abnormal g... ORPHA:567544
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... OMIM:615816
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... ORPHA:275
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibod... ORPHA:37042
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Maculopapular exanthem... ORPHA:83313
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Primary Biliary Cholangitis
Pruritus, Gastrointestinal inflammation, Increased circulating IgM level, Cirrhosis, Autoimmunity... ORPHA:186
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammatory abnormality of the skin ORPHA:90159
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Renal angiomyolipoma... OMIM:260920
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis OMIM:216950
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Autoimmune anti... ORPHA:411593
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Reversible renal failure, Circulating immune complexes, Acute tubulointersti... OMIM:607665
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Autoimmunity, Megaloblastic anemia, Lymphopenia, Decreased c... OMIM:617780
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Pericarditis, A... ORPHA:449395
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Agammagl... ORPHA:33110
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Acne Inversa, Familial, 3
Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmunity, Autoimmu... OMIM:613011
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Candidiasis, Familial, 2
Deep dermatophytosis, Hypereosinophilia, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Q Fever
Hematuria, Cryoglobulinemia, Pericarditis, Anticardiolipin IgG antibody positivity, Antimitochond... ORPHA:781
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... OMIM:300853
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Insulin-Resistance Syndrome Type B
Skin rash, Nephritis, Systemic lupus erythematosus, Autoimmunity, Decreased serum complement fact... ORPHA:2298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Short stature OMIM:610798
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arthritis, IgA dep... OMIM:178610
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227990
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Decreased circulating total I... OMIM:614699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Recurrent urinary tract... OMIM:209920
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneumonia, Panc... OMIM:614700
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Incr... ORPHA:400
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis OMIM:193670
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227982
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Adult-Onset Still Disease
Skin rash, Pruritus, Pericarditis, Elevated hepatic transaminase, Leukocytosis, Myocarditis, Hepa... ORPHA:829
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Recurrent ot... OMIM:615577
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Angiostrongyliasis
Pruritus, Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosi... ORPHA:74
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... ORPHA:100024
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Complement Component 4B Deficiency
Decreased serum complement C4b, Chronic active hepatitis OMIM:614379
Zika Virus Disease
Skin rash, Pruritus, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thromboc... ORPHA:448237
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Increased circulating IgG level, Elevated circulatin... ORPHA:1304
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Thyroiditis, Postnatal growth retardation, Delayed puberty, Shor... OMIM:618985
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Molluscum contagiosum, Dysgammag... OMIM:300291
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Argininuria, Anemia, Leukopenia, Hyperlysinuria, He... ORPHA:470
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Short stature, Intraute... OMIM:301006
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:147060
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Growth delay, Hepatomegaly, Increased circulating IgA level, Recurrent aphthous stom... ORPHA:343
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Acquired Partial Lipodystrophy
Lymphocytosis, Autoimmunity, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Decreased ... ORPHA:79087
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Short ... OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Eosin... OMIM:618523
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody lev... ORPHA:48377
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Severe short stature, Intrauterine growth retardation, Decreased circulating total I... ORPHA:2643
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Systemic lupu... OMIM:170100
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Autoimmunity, Increased circulating antibody level,... ORPHA:449432
Immunodeficiency 31C
Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia, Growth delay, Delayed puberty, Chronic mu... OMIM:614162
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating... OMIM:613385
Primary Sclerosing Cholangitis
Pruritus, Polyclonal elevation of IgM, Thyroiditis, Jaundice, Hypoalbuminemia, Renal insufficienc... ORPHA:171
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Macronodular cirrhosis, Abnormal T cell morphology, Decreased circulating ... OMIM:215250
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Eczema, Renal artery stenosis, Autoimmune thrombocy... ORPHA:391487
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepatic steatosis... OMIM:300972
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Glomerulonephritis, Short stature, Stage 5 chronic kidney disease, ... OMIM:614376
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating C-reactive protein concentration, Renal insu... ORPHA:49041
Tularemia
Skin rash, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Pneumonia, Thro... ORPHA:3392
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cirrhosis, Antineutrophil antibody positivity, Autoi... ORPHA:228426
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Severe short stature, Intrauterine growth retardation, Decreased circulating total I... OMIM:251190
Aspergillosis
Abnormality of the kidney, Increased circulating IgE level, Bronchiectasis, Pneumonia, Neutropeni... ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepa... OMIM:301045
Secondary Intestinal Lymphangiectasia
Hypoproteinemia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Recurrent skin ... ORPHA:90363
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Growth delay, Foamy urine, ... ORPHA:567548
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Systemic lupus erythematosus, He... ORPHA:101330
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Hypoalbuminemia, Myocardit... ORPHA:36234
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Pneumonia OMIM:614069
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal lactate... ORPHA:98827
Isolated Agammaglobulinemia
Skin rash, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, T... ORPHA:229717
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Hyperproteinemia, Nephropathy, Abnorma... ORPHA:29073
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Spondyloenchondrodysplasia
Skin rash, Systemic lupus erythematosus, Hematuria, Autoimmune thrombocytopenia, Proteinuria, Aut... ORPHA:1855
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gran... OMIM:618935
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Reduced natural killer cel... OMIM:616050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopen... ORPHA:292
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Drug-Induced Lupus Erythematosus
Serositis, Hematuria, Pericarditis, Decreased serum complement C4, Thrombocytopenia, Lupus antico... ORPHA:231111
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Short stature, IgA... OMIM:618348
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Autoimmune hemolytic anemia, Autoimmunity, Hypoplasia of the thymus, Intraut... OMIM:243150
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Proteinuria, Increased circulating antibody level, Myos... ORPHA:69126
Roifman Syndrome
Decreased circulating antibody level, Recurrent otitis media, Postnatal growth retardation, Short... ORPHA:353298
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia, Lupus anticoagulant, Anterio... OMIM:616744
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Recurrent... OMIM:256040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media OMIM:608971
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Coccidioidomycosis
Peritonitis, Skin rash, Pruritus, Pericarditis, Pneumonia, Abnormality of the bladder, Increased ... ORPHA:228123
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Renal insuff... ORPHA:93552
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar... OMIM:307200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Complement Factor I Deficiency
Pyelonephritis, Decreased serum complement factor B, Decreased serum complement factor H, Recurre... OMIM:610984
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Elevated total serum tryptase, Mac... ORPHA:98848
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Neutropenia, Colitis, Eczema, Decreased c... OMIM:608809
Eosinophilopenia
Autoimmunity, Decreased eosinophil count, Allergic rhinitis OMIM:131430
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level, Abnormality of the kidney ORPHA:284227
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Eczema... OMIM:617827
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Bloom Syndrome
Bronchiectasis, Postnatal growth retardation, Intrauterine growth retardation, Malar rash, Decrea... OMIM:210900
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Myasthenia Gravis
Systemic lupus erythematosus, Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Hash... ORPHA:589
Wilson Disease
Acute hepatitis, Pruritus, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hep... ORPHA:905
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-... OMIM:208900
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Legionnaires Disease
Endocarditis, Pericarditis, Hematuria, Lymphopenia, Jaundice, Hepatitis, Splenomegaly, Encephalit... ORPHA:549
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating IgA l... OMIM:275350
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Rec... OMIM:613179
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Postnatal growth retardation, Colitis, Leukopenia, Intraute... OMIM:615190
Adamantinoma
Hypercalcemia ORPHA:55881
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Elevated hepatic transaminase, Leukocytosis, Abnormali... ORPHA:297
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Decreased ci... OMIM:256500
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Short stature, Anemia OMIM:618165
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Recurrent urinary tract infecti... OMIM:300755
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Enlarged kidney, Decreased circulating IgG level, Heavy proteinu... ORPHA:505248
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Immunodeficiency 66
Pustule, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Complement deficiency, Elevated circulating C-re... ORPHA:449427
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia OMIM:612692
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia ORPHA:34527
Cryoglobulinemic Vasculitis
Hematuria, Cryoglobulinemia, Proteinuria, Viral hepatitis, Circulating immune complexes, Glomerul... ORPHA:91138
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Decreased circulating total IgA, Antinuclear antibody positivity,... ORPHA:1929
Avian Influenza
Myelitis, Acute kidney injury, Elevated hepatic transaminase, Lymphopenia, Increased circulating ... ORPHA:454836
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Felty Syndrome
Recurrent pneumonia, Pericarditis, Autoimmunity, Abnormal lymphocyte morphology, Chronic otitis m... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the kidney, Increased circulating IgE level, Thyroiditis, Orchitis, I... ORPHA:449563
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Autoi... ORPHA:275555
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Immunodeficiency 58
Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis... OMIM:618131
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immu... ORPHA:3162
Systemic Sclerosis
Pruritus, Osteomyelitis, Abnormality of the kidney, Pericarditis, Acute kidney injury, Albuminuri... ORPHA:90291
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Elevated circul... OMIM:604416
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgM, Decreased specific antibody response t... ORPHA:221139
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Decreased circulating antibody level, Abnormal lymphoc... ORPHA:99867
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Lambert Syndrome
Decreased circulating antibody level, Cholestasis, Intrauterine growth retardation, Jaundice, Int... ORPHA:1296
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Hyperechogenic kidneys, Decreased specific anti-p... OMIM:614576
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level ORPHA:89843
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia OMIM:615387
Gaucher Disease Type 1
Cirrhosis, Hematuria, Increased circulating antibody level, Growth delay, Biliary tract obstructi... ORPHA:77259
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... OMIM:618282
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, A... ORPHA:634
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Elevated hepatic transaminase, Thyroiditis, Stomatitis, P... OMIM:212750
Bloom Syndrome
Skin rash, Decreased circulating total IgM, Decreased circulating antibody level, Growth delay, U... ORPHA:125
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Thymic Tumor
Autoimmunity, Dysgammaglobulinemia, Pericarditis ORPHA:100100
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level, Short stature OMIM:270300
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Leukocytos... OMIM:610377
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Pruritus, Increased circulating IgE level, Chronic otitis media, Eczema, Osteomyelitis... ORPHA:2314
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Increased circulating IgE level, Blepharitis OMIM:614328
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level ORPHA:2571
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Maculopapular exanthema,... ORPHA:398124
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... ORPHA:486
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly, Rec... OMIM:611762
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Abnormal renal tubule morphology, Cholestasis, Hepatitis, Cholesta... ORPHA:440713
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Acquired Ichthyosis
Autoimmunity, Pruritus, Renal insufficiency, Recurrent skin infections ORPHA:454
Omenn Syndrome
Pruritus, Autoimmunity, Leukocytosis, Abnormal lymphocyte morphology, Thyroiditis, Erythroderma, ... ORPHA:39041
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Elev... ORPHA:79124
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Autoimmunity, Panniculitis, Pancy... OMIM:618398
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Diffuse Alveolar Hemorrhage
Hematuria, Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Decreased serum comple... ORPHA:90060
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Autoimmune thrombocytopenia, Bronchiectasis, Dec... ORPHA:1572
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Viral hepatiti... ORPHA:139507
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains, Elevated hepatic transaminase OMIM:610329
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Cinca Syndrome
Skin rash, Leukocytosis, Growth delay, Uveitis, Elevated circulating C-reactive protein concentra... OMIM:607115
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Eczema, Postnatal growth retardation OMIM:233810
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Abnormal cir... ORPHA:1578
Majeed Syndrome
Skin rash, Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed puberty, Anemia of ina... OMIM:609628
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Elevated circ... ORPHA:85414
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Melioidosis
Lung abscess, Prostatitis, Cutaneous abscess, Unusual skin infection, Splenic abscess, Acute infe... ORPHA:31202
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Rheumatoid arthritis, Rheumatoid factor positive, Elevated circulating C-reactive prote... ORPHA:79099
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Autoimmunity, Glomerulopathy, Anemia, Renal insufficiency, Arthritis ORPHA:375
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Reduced hematocrit, Increased circulating IgG level, Elevated circulating C-reactive p... ORPHA:91500
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Thrombo... ORPHA:169105
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Renal amyloidosis, Leukocytosis, Uveitis, Conjunctivitis, Elevated circulating C-react... OMIM:120100
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level, Encephalitis ORPHA:79139
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level, Cirrhosis OMIM:178500
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Ataxia-Telangiectasia
Elevated hepatic transaminase, Decreased circulating antibody level, Lymphopenia, Delayed puberty... ORPHA:100
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hepatic steatosis, Proximal tubulopathy, Hepatic f... OMIM:212065
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmunity, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal absc... ORPHA:436252
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... ORPHA:3243
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... OMIM:242900
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Hematuria, Proteinuria, Autoimmunity, Uveitis, Glomerulopathy, Hepatomegaly,... ORPHA:36412
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level, Short stature ORPHA:1951
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Increased circulating antibody level, Hep... ORPHA:284
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Growth delay, Hepatomegaly, Decreased circulating IgA level, Anemia, Splenom... OMIM:612301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Decreased circulating antibody level, Agammaglobulinemia, Hyposp... OMIM:616910
Smith-Kingsmore Syndrome
Thrombocytopenia, Rhizomelia, Decreased circulating IgA level OMIM:616638
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Skin rash, Eleva... OMIM:603553
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Linear Iga Dermatosis
Autoimmunity, Pruritus, Renal neoplasm, Inflammation of the large intestine ORPHA:46488
Lymphatic Filariasis
Epididymitis, Hematuria, Urethral obstruction, Lymphadenitis, Orchitis, Circulating immune comple... ORPHA:2035
Gaucher Disease
Cirrhosis, Hematuria, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepat... ORPHA:355
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Livedoid Vasculopathy
Systemic lupus erythematosus, Autoimmunity, Leukocytosis, Polycythemia, Superficial dermal periva... ORPHA:542643
Myeloma, Multiple
Paraproteinemia OMIM:254500
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed pub... ORPHA:251004
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, C... ORPHA:90045
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Decreased circulating antibody level, Lymphopenia, Erythroderma, ... OMIM:617425
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Proteinuria, Leukocytosis, Congenital hypoplastic anemia,... ORPHA:77297
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Delayed pu... OMIM:614921
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... ORPHA:100026
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Rena... ORPHA:33226
Wilson Disease
Cirrhosis, Hemolytic anemia, Hyperphosphaturia, Hepatocellular carcinoma, Aminoaciduria, Glycosur... OMIM:277900
Late-Onset Isolated Acth Deficiency
Autoimmunity, Hashimoto thyroiditis, Normocytic anemia, Hepatitis, Eosinophilia, Macrocytic anemia ORPHA:199299
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia OMIM:617638
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Hepatitis, Intrauterine growth retardation OMIM:614602
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Growth... OMIM:242840
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia, Aut... ORPHA:90036
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Abnormality of the kidney, Systemic lupus erythematosus, Pericarditis,... OMIM:609939
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, P... OMIM:105200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Hepatomegaly, Impaired T cell function, Short stature, Splenomegaly OMIM:201100
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema ORPHA:2584
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eczema, Atopic dermatitis, Eosinophilia OMIM:243700
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Dubowitz Syndrome
Postnatal growth retardation, Decreased circulating IgA level, Aplastic anemia, Hypospadias, Intr... OMIM:223370
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Gr... OMIM:226300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Bronchiectasis, Autoimmune thrombocytopenia, Decreased circulating anti... ORPHA:293978
Lead Poisoning
Skin rash, Increased circulating IgE level, Abnormality of humoral immunity, Abnormal T cell morp... ORPHA:330015
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Otitis media OMIM:602450
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Pruritus, Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dermatitis Herpetiformis