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Gene: Dusp22 MGI:1915926

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Gene Summary

Name:
dual specificity phosphatase 22
Synonyms:
JKAP,  1110028K04Rik,  JSP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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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.

X-ray

XRay Images Skull Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Dusp22 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Dusp22 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Nephrotic synd... OMIM:617006
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... ORPHA:859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... OMIM:617638
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Chronic mucocutaneous candi... ORPHA:98813
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Macrophage Activation Syndrome
Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con... ORPHA:158061
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... ORPHA:397596
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity, Recurrent sinopulm... OMIM:609529
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Recurr... OMIM:216950
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatospl... OMIM:209950
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen... ORPHA:277
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,... OMIM:619774
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Decreased circulating IgG level, Reduced natural killer c... OMIM:619752
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections OMIM:137100
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash,... ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased... OMIM:615758
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po... ORPHA:781
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Anti-glutamic acid decarboxyla... OMIM:304790
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus OMIM:613783
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... ORPHA:33110
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Increa... OMIM:614034
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly, Follicular ... OMIM:614470
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev... OMIM:620632
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Hyper... ORPHA:562639
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I... OMIM:620376
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... ORPHA:540
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity ORPHA:90159
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG leve... OMIM:226990
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Nephrotic syndrome, Rheumatoid factor positiv... ORPHA:91139
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Rheumatoid arthritis,... ORPHA:227990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... OMIM:617780
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr... OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Decreased circulating antib... OMIM:617744
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno... ORPHA:2585
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Recurrent aphthous stomatitis, Decreased circulatin... OMIM:612782
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Immunodeficiency 46
Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, Conjuncti... OMIM:616740
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... OMIM:615122
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Skin rash, Anemia... ORPHA:33355
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Bronchitis, Ch... ORPHA:60
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Rheumatoid arthritis,... ORPHA:227982
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre... OMIM:618116
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... ORPHA:169079
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Portal hypertension, Spl... OMIM:613385
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Tularemia
Pneumonia, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpholog... ORPHA:3392
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Increase... ORPHA:37748
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit... OMIM:243150
Lambert Syndrome
Cholestasis, Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Hyposp... ORPHA:1296
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Enuresis nocturna, Bronchitis, D... ORPHA:420741
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Functional abnormality of the bladder, Decreased circulating IgG2 lev... ORPHA:2571
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Recurrent lower respir... OMIM:613179
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Focal segmental glo... OMIM:617303
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Decreased circulating ant... OMIM:616910
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,... OMIM:620603
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Adult-Onset Still Disease
Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopath... ORPHA:829
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Recu... ORPHA:83471
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Pancyto... OMIM:275350
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Legionnaires Disease
Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo... ORPHA:549
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed hypers... OMIM:301000
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Antinuclear antibody ... OMIM:152700
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... ORPHA:93552
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re... ORPHA:83313
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti... ORPHA:1572
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E... OMIM:619381
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as... OMIM:170100
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas... ORPHA:90003
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Increased circulating antibo... ORPHA:69126
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Rec... OMIM:307200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,... OMIM:301078
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,... ORPHA:90363
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Reduced nat... ORPHA:221139
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating... OMIM:619750
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased... ORPHA:449395
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... ORPHA:169154
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Rheumatoid factor positive, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follic... OMIM:615934
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgA level, Hypotriglyceridemia, Enlarged poly... ORPHA:2298
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... ORPHA:319218
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Hepatomegaly, K... OMIM:617388
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Porphyria Cutanea Tarda
Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci... ORPHA:101330
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N... ORPHA:158057
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,... ORPHA:2902
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen... OMIM:620514
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi... ORPHA:353298
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno... OMIM:215250
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal... ORPHA:79330
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain, Recurrent respiratory infections OMIM:614102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf... ORPHA:169105
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent tonsillitis, Bronchitis, Recurrent urinary ... ORPHA:125
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Rheumatoid factor po... OMIM:615816
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm... ORPHA:178320
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,... OMIM:242860
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce... OMIM:613070
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level, Hypoproteinemia ORPHA:1116
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated... ORPHA:1304
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ... ORPHA:470
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Skin rash, Hydr... ORPHA:634
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Xq28 (MECP2) duplication
Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf... DECIPHER:45
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Nephrotic syndrome, Lymphad... ORPHA:911
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... OMIM:210900
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Acute kidney injury, Increased circulating lactate dehydrog... ORPHA:454836
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... ORPHA:228426
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creatinine con... ORPHA:36234
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho... ORPHA:100
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... OMIM:616050
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu... ORPHA:723
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Cryoglobulinemia, Hematuria, Protein... ORPHA:91138
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... OMIM:601495
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Otitis... ORPHA:229717
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... ORPHA:85435
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration ORPHA:930
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati... ORPHA:29073
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elevated circulating alkaline phospha... OMIM:618162
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Cholestatic liver disease, Gl... OMIM:613404
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c... ORPHA:139507
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth... OMIM:615688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Renal hypoplasia, Severe B lymphocytopenia, He... OMIM:620005
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ... OMIM:605309
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ... OMIM:617099
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increas... ORPHA:77259
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Leukopenia, Decreased circulating antibody level OMIM:615190
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr... OMIM:618752
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Splenomegaly, In... OMIM:617591
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Decreased circulating antibody level, Eosinophi... ORPHA:90045
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocyt... OMIM:226300
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Anemia, Dec... ORPHA:231111
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Cholestatic liver disease, El... OMIM:208085
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody p... ORPHA:1855
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... OMIM:610984
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo... ORPHA:448237
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Lymphopenia, He... OMIM:618935
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis... ORPHA:292
Gaucher Disease
Decreased HDL cholesterol concentration, Pancytopenia, Increased circulating antibody level, Hema... ORPHA:355
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Hepati... ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertri... OMIM:603552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Systemic lupus erythematosus, Anti-acetylcholine rec... ORPHA:589
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Renal ins... ORPHA:457077
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Hyperuri... OMIM:162000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Abnormal lung lobation, Decreased circulatin... ORPHA:369837
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Elevated... ORPHA:85414
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Acute hepatitis, Homoc... OMIM:238970
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Pulmonary fibrosis, Elevated circulating creatinine concentra... ORPHA:90060
Lassa Fever
Conjunctivitis, Jaundice, Increased circulating IgM level, Oliguria ORPHA:99824
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Acute kidney injury, Elevated circulating hepatic... ORPHA:542323
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulatin... ORPHA:79087
Microlissencephaly
Pneumonia ORPHA:1083
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ... ORPHA:37202
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... ORPHA:449432
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Elevated urine mevaloni... OMIM:260920
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen... ORPHA:31202
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pulmonary fibrosis, Anemia, Pure red cell aplasia, Decreased circulating an... OMIM:618165
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Severe B lymphocytopenia, Recurrent upper respiratory tract infections, Recu... ORPHA:293978
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Recurrent otitis media, Chronic decreased circ... OMIM:615607
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Chilblains, Increased circulating interferon-gamma concentration OMIM:612952
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... OMIM:616084
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... OMIM:614380
Hypocomplementemic Urticarial Vasculitis
Ascites, Reduced circulating complement concentration, Emphysema, Autoimmunity, Episcleritis, Ski... ORPHA:36412
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:610377
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... OMIM:214950
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Anticardiolipin IgM antibody positivity, Jaundice, Ascites, In... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Bone marrow hypocellularity, Focal segmental glom... ORPHA:1830
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Vici Syndrome
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, R... OMIM:606056
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Anemia, Eosi... ORPHA:39041
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hepatosplenomegaly,... OMIM:618963
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,... ORPHA:98848
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal pulmonary interstitial morphology, Emphysema, Pancy... OMIM:181000
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... OMIM:242900
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati... OMIM:613327
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Icf Syndrome
Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ... ORPHA:2268
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce... ORPHA:64744
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Eczematoid dermatitis, Pancreatic hypoplasia, Superfici... ORPHA:83617
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrh... ORPHA:99931
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Erythema nodosum, Abnormality of the kidney, Pleura... ORPHA:228123
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Dec... OMIM:619374
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ab... ORPHA:79324
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Caffey Disease
Increased circulating antibody level ORPHA:1310
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Elevate... OMIM:212065
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... OMIM:104200
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
Wolfram Syndrome 2
Neurogenic bladder, Decreased circulating antibody level, Impaired collagen-induced platelet aggr... OMIM:604928
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Ascites, Pleural e... OMIM:618183
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep... OMIM:105200
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter... ORPHA:284
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe... ORPHA:464343
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Abnormality of the urinary system, Aspiration... ORPHA:90117
Alopecia Areata 1
Autoimmunity OMIM:104000
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased c... OMIM:222470
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis OMIM:614602
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Decreased circulating antibody level OMIM:617425
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... OMIM:616871
Yellow Fever
Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfer... ORPHA:99829
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Alport Syndrome
Thickened glomerular basement membrane, Nephritis, Focal segmental glomerulosclerosis, Glomerular... ORPHA:63
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Splenomegal... OMIM:615387
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231226
Mccune-Albright Syndrome
Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Hyper... ORPHA:562
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Eosinophilic infil... OMIM:618213
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re... ORPHA:584
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Aapoaiv Amyloidosis