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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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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Dorso Ventral

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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 Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... OMIM:607271
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Chronic oral candidiasis, Skin rash, Decreased cir... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio... OMIM:615559
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... OMIM:616100
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... OMIM:618534
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... OMIM:615139
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level OMIM:118900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... OMIM:603909
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... ORPHA:158061
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent respiratory i... OMIM:613495
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:615577
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Neutropenia, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis, Autoimmunity OMIM:216950
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... OMIM:619752
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... OMIM:609529
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... OMIM:614700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... OMIM:619773
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... ORPHA:3261
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... OMIM:619774
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Eosinophilia, Decr... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating antibody level, Pneumonia OMIM:614069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Reduced circul... OMIM:619632
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Immunodeficiency 61
Arthritis, Recurrent sinusitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory... OMIM:300310
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Chronic otitis media, Abnormality of the lymph... ORPHA:47
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... ORPHA:572
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... OMIM:619510
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuri... ORPHA:781
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... OMIM:301081
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-... OMIM:615615
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia OMIM:615214
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase anti... ORPHA:37042
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune thrombocyt... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections OMIM:137100
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Rec... OMIM:616576
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... OMIM:610163
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Chilblain Lupus
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, A... ORPHA:90280
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Panhypogammaglo... OMIM:601457
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... ORPHA:562639
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Panhypogammaglobu... OMIM:615207
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Decreased lymphocyte proliferation in response to mitogen, Lack of T cell fun... ORPHA:35078
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy... OMIM:619846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... ORPHA:169079
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Decreased circulating IgG level, Elev... OMIM:613011
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent urinary tract i... OMIM:209920
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Hypospadias, Elevated hepatic tra... OMIM:301045
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... ORPHA:91139
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... OMIM:615952
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... ORPHA:381
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Primary Biliary Cholangitis
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abnorma... ORPHA:186
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... ORPHA:227990
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Respiratory tract infection OMIM:615592
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... OMIM:618108
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Recurrent... OMIM:617744
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive ... OMIM:617241
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... ORPHA:449400
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Reticular Dysgenesis
Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Decreased circulating an... ORPHA:33355
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Elevated circulating C-reactiv... ORPHA:829
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... ORPHA:227982
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Chronic ... ORPHA:275
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... OMIM:616740
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Sp... OMIM:613385
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... ORPHA:276
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decreased circulating antibody level, Jau... ORPHA:1296
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Recurrent bronchopulmonary inf... OMIM:617303
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... OMIM:243150
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... ORPHA:2571
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, ... OMIM:178500
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Abnorm... OMIM:619652
Thymic Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Autoimmunity, Dysgammaglobulinemia, D... ORPHA:100100
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Legionnaires Disease
Pancreatitis, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone marrow hypoce... ORPHA:549
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum compleme... OMIM:613779
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... OMIM:618042
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... OMIM:612301
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... OMIM:600802
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol... ORPHA:93552
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu... OMIM:152700
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... ORPHA:90003
Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... ORPHA:83471
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... ORPHA:83313
Prolidase Deficiency
Increased circulating antibody level, Asthma, Systemic lupus erythematosus, Hepatomegaly, Splenom... OMIM:170100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnor... OMIM:602450
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... ORPHA:79124
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, Decreased ci... OMIM:301078
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... OMIM:619381
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Asthma, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, He... OMIM:619750
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Absence... OMIM:608184
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr... ORPHA:90363
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Recurrent urinary tract infections, Panh... OMIM:307200
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:606367
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Cough, Ac... ORPHA:319218
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Follicular hyp... OMIM:615934
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Glycosuria, Proteinuria, Pneumonia, Enlarged polyc... ORPHA:2298
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... OMIM:613652
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... ORPHA:454836
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Recurrent u... ORPHA:169105
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... OMIM:614379
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Elevated circulating C-reactive protein concentrat... OMIM:617388
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis, Abnormal abdomen morphology OMIM:219400
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Mogs-Cdg
Respiratory distress, Apnea, Decreased circulating IgA level, Hepatomegaly, Decreased circulating... ORPHA:79330
Immunodeficiency 58
Eczema, Decreased specific antibody response to vaccination, Colitis, Chronic bronchitis, Esophag... OMIM:618131
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Hypospadias OMIM:616910
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopol... OMIM:215250
Roifman Syndrome
Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon... ORPHA:353298
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, Uveitis, Pneumonia, Rhiniti... ORPHA:125
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema, Asthma, Increased circulating IgE level OMIM:147050
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Increased serum iron, Por... ORPHA:101330
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Elevated circulating alka... OMIM:620005
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Elevated circulating C-reactive protein concentration, Comple... ORPHA:449427
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, ... ORPHA:1304
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Decreased circulating IgA level, Chronic bronchitis, T lymphocytopenia, Increased circ... OMIM:242860
Immunodeficiency 23
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Increased ci... OMIM:615816
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody level, Pulmonary ... ORPHA:586
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Sept... ORPHA:36234
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinem... OMIM:613070
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... ORPHA:470
Netherton Syndrome
Asthma, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, H... ORPHA:634
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Nephrotic syn... OMIM:615846
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decrea... OMIM:226300
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Acute he... ORPHA:228426
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Rift Valley Fever
Skin rash, Increased circulating IgG level, Hematuria, Elevated hepatic transaminase, Hepatitis, ... ORPHA:319251
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Cystic Echinococcosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... ORPHA:400
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Pulmonary hemo... OMIM:616414
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Ataxia-Telangiectasia
Lymphopenia, Elevated hepatic transaminase, Decreased circulating antibody level, Aplasia/Hypopla... ORPHA:100
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... ORPHA:139402
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level, Recurrent respiratory inf... DECIPHER:45
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Decreased serum complement C4,... ORPHA:90060
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... ORPHA:54370
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi... ORPHA:91138
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroder... ORPHA:3162
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu... OMIM:613404
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... ORPHA:29073
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... ORPHA:79303
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr... OMIM:619693
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... ORPHA:231111
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Elevated circulating C-re... OMIM:617099
Myotonic Dystrophy 2
Decreased circulating total IgM, Elevated circulating creatine kinase concentration, Decreased ci... OMIM:602668
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Pancytopenia, Bone m... OMIM:615688
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Recurrent upp... OMIM:233600
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Abnor... ORPHA:848
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Felty Syndrome
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splenomegaly,... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... ORPHA:2688
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... OMIM:617591
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Lymphopenia, Decreased c... ORPHA:508533
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the l... OMIM:608809
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level OMIM:615190
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... ORPHA:448237
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... ORPHA:48104
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopenia, Chole... ORPHA:292
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Eosinophilia, Recurrent urinary tract infections, Decreased circ... ORPHA:90045
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Lassa Fever
Jaundice, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Conjunctivitis ORPHA:99824
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Intrahepa... OMIM:208085
Spondyloenchondrodysplasia
Chronic kidney disease, Systemic lupus erythematosus, Skin rash, Juvenile rheumatoid arthritis, A... ORPHA:1855
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Ly... OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Central sleep apnea, Congenital megaureter, Decreased circulatin... ORPHA:369837
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Elevated circulating creatine kinase con... ORPHA:90117
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Graft Versus Host Disease
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Hy... ORPHA:39812
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia ORPHA:319552
Rasmussen Subacute Encephalitis
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Conjunctivitis, Hepatomegaly, Hemophagocytosis, Ski... OMIM:603552
Wilson Disease
Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Acute hepatic failure, Arthritis, Thrombocytopenia... ORPHA:905
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... OMIM:610984
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent upper respiratory tract infections, Autoimmune thrombocytopen... ORPHA:293978
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... OMIM:607765
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Juv... ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... ORPHA:51636
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... OMIM:162000
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3, Microscopic hematuria, Autoimmunity, Proteinuria, G... ORPHA:79087
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... ORPHA:77259
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Complement deficiency, Hematuria, Uveitis, Proteinuria, Inflamm... ORPHA:36412
Netherton Syndrome
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Incr... OMIM:256500
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Complement defic... ORPHA:449432
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Elevated circulating C-reactiv... ORPHA:355
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... OMIM:607665
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... ORPHA:275555
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis ORPHA:3327
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormal circulating interleukin concentration, Uveitis, Au... ORPHA:85410
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Nodular pattern on pulmonary HRCT, Hepatosplenom... ORPHA:99931
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Microlissencephaly
Pneumonia ORPHA:1083
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Increased circulat... OMIM:260920
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hepatomegaly, Hypoventilation OMIM:606056
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of t... OMIM:242700
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Increased circulating antibody level, Splenom... OMIM:181000
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... OMIM:214950
Myeloma, Multiple
Paraproteinemia OMIM:254500
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosem... OMIM:230350
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... ORPHA:31202
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De... OMIM:616084
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... OMIM:242900
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Decreased serum complement C3, Leukope... OMIM:301080
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Decreased HDL cholestero... OMIM:203800
Complement Component 4A Deficiency
Glomerulonephritis, Decreased serum complement C4, Systemic lupus erythematosus, Reduced hemolyti... OMIM:614380
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Ataxia-Telangiectasia
Sinusitis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Elevate... OMIM:208900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Nijmegen Breakage Syndrome
Sinusitis, Otitis media, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia... OMIM:251260
Neonatal Alloimmune Neutropenia
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Jaundic... ORPHA:464370
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Skin rash, Splenomegaly, Hepatospleno... OMIM:618963
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Impaired T cell function,... ORPHA:1830
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Hepatomegaly, Micropenis, Eczema, Severe B lymphocytopenia,... ORPHA:83617
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lym... OMIM:603554
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Autoimmunity, Dyspnea ORPHA:228312
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Igg4-Related Thyroid Disease
Hypocalcemia, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti... ORPHA:64744
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... ORPHA:64743
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Vici Syndrome
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... ORPHA:1493
Coccidioidomycosis
Respiratory distress, Pancreatitis, Pneumonia, Pericarditis, Osteomyelitis, Morbilliform rash, Pe... ORPHA:228123
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... ORPHA:2552
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Micropenis OMIM:300953
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, Fluct... OMIM:610377
Immunodeficiency 17
Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased... OMIM:615607
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Alveolar Echinococcosis
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... ORPHA:284
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Skin rash, Splenome... OMIM:603553
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Abnormality of the ... ORPHA:284227
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Asthma, Systemic lupus erythematosus, Eczema, Monocytosis, Leukopenia, Refractory anemia, Bone ma... OMIM:616871
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Alopecia Areata 1
Autoimmunity OMIM:104000
Pulmonary Alveolar Proteinosis, Acquired
Anti-granulocyte-macrophage colony stimulating factor antibody positivity, Intraalveolar phosphol... OMIM:610910
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase... OMIM:613327
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Erythroderma OMIM:617425
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Thrombocytopenia, Inc... ORPHA:79078
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Nephrotic syndrome, Hepatomegaly, Decreased circulating IgG leve... OMIM:212065
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Micropenis, Hypospadias, Decreased circulating antibody level, Respiratory tract in... OMIM:607143
Catastrophic Antiphospholipid Syndrome
Anti-beta 2 glycoprotein I antibody positivity, Antiphospholipid antibody positivity, Systemic lu... ORPHA:464343
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Icf Syndrome
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ... ORPHA:2268
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Nephrotic syndrome, Decreased circulating IgG level, Re... ORPHA:505248
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Vici Syndrome
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... OMIM:242840
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Leukocytosis, Art... OMIM:611762
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Decreased circulat... OMIM:618183
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Elevated circulating alka... ORPHA:85443
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Impaired T cell function,... ORPHA:30
Alport Syndrome
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... ORPHA:63
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity, Hyperventilation, Urinary incontinence ORPHA:83600
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Hematuria, Arthritis, Cough, Autoimmunity, Renal insufficiency, Protei... ORPHA:375
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron OMIM:614602
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypospadias, Abnormality of the pancreas,... OMIM:222470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acute hepatitis OMIM:238970
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Elevated circulating cr... ORPHA:93126
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated cir... ORPHA:340
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media OMIM:618428
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Nephronophthisis-Like Nephropathy 2
Polyuria, Cough, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal in... OMIM:619468
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Chro... ORPHA:231226
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Pancreatitis, Cholestasis, ... ORPHA:562
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, I... OMIM:602390