Gene Summary

Name:
signal transducer and activator of transcription 6
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Stat6em1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Stat6 mutations

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

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

The table below shows human diseases associated to Stat6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Solitary Fibrous Tumor
Fever, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-peptide level, Genital neoplasm, Neoplas... ORPHA:2126

The table below shows human diseases predicted to be associated to Stat6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... OMIM:618459
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo... OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Recurrent opportunistic infections, Increased circulating IgE level, Recurrent uppe... ORPHA:277
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Chilblain Lupus 2
Chilblains OMIM:614415
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... OMIM:613495
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:615767
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, I... ORPHA:98813
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections OMIM:616941
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... OMIM:617638
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... OMIM:614069
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Hepatosplenomegaly,... ORPHA:169160
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia... OMIM:619510
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... OMIM:618282
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leukem... OMIM:616005
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre... OMIM:618048
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb... OMIM:614470
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Partial absence o... OMIM:618261
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... OMIM:618523
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... OMIM:619752
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly, ... OMIM:620210
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Peeling Skin Syndrome 1
Scaling skin, Increased circulating IgE level, Eosinophilia OMIM:270300
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Skin ulcer, Decreased circu... ORPHA:33355
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Pyoderma ga... OMIM:616576
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Rheumatoid factor positive, Abscess, Eosinoph... OMIM:615816
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased... ORPHA:443811
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Immunodeficiency 22
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... OMIM:615758
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Decreas... OMIM:615559
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre... OMIM:615577
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency 27A
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating... OMIM:209950
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane... OMIM:304790
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Recurrent upp... OMIM:602450
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Reduction of neutrophil motility, Recurrent... OMIM:266265
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections ORPHA:79503
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Activated Pi3K-Delta Syndrome
Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased c... ORPHA:397596
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Perianal erythema, Perioral erythema OMIM:614328
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... OMIM:601457
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity ORPHA:2902
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... ORPHA:3261
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Erythema, Abnormal immunoglobulin level ORPHA:90159
Selective Igm Deficiency
Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio... ORPHA:331235
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Antiphospholipid antibody positivity, Rheumatoid factor positiv... OMIM:615934
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circula... OMIM:613101
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Pyoderma Gangrenosum
Skin ulcer, Increased circulating antibody level, Rheumatoid arthritis, Skin vesicle, Myeloid leu... ORPHA:48104
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Skin ulcer, Recu... ORPHA:2314
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Primary Erythromelalgia
Hypothermia ORPHA:90026
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Decreased circulating complement factor I concentrati... OMIM:613652
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Incre... ORPHA:507
Ulerythema Ophryogenesis
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis ORPHA:3406
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis ORPHA:498359
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Cough, Decreased DLCO, Pu... OMIM:178500
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod... OMIM:301045
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Scaling skin ORPHA:90368
Immunodeficiency 53
Recurrent otitis media, Recurrent pneumonia, Skin rash OMIM:617585
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma ORPHA:2897
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Prolidase Deficiency
Petechiae, Splenomegaly, Recurrent pneumonia, Skin ulcer, Recurrent infections, Anemia, Systemic ... OMIM:170100
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat... OMIM:300635
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Subcorneal Pustular Dermatosis
Autoimmunity, Erythema, Systemic lupus erythematosus, Increased circulating antibody level, Rheum... ORPHA:48377
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Pneumocystosis
Fever, Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respirat... ORPHA:723
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent pneumonia, Sepsis, Skin ulcer, Aga... ORPHA:47
Aspergillosis
Eosinophilia, Meningitis, Increased circulating IgE level, Unusual CNS infection, Invasive pulmon... ORPHA:1163
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... ORPHA:37042
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up... ORPHA:183675
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Hepatosplenomegaly, Dec... OMIM:615122
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Caffey Disease
Increased circulating antibody level ORPHA:1310
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Autoimmunity, Abnormalit... ORPHA:229717
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Riboflavin Deficiency
Hypothermia OMIM:615026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616910
Say-Barber-Miller Syndrome
Abnormality of the hairline, Highly arched eyebrow, Eczema, Sparse eyebrow, Cryptorchidism, Eryth... ORPHA:3132
Alpha-Heavy Chain Disease
Fever, Hypocalcemia, Lymphoma, Dysgammaglobulinemia ORPHA:100025
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... ORPHA:91139
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, In... ORPHA:449432
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Splenomegaly,... ORPHA:2137
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Recurrent infections, Decreased circulating complement C3 concentr... ORPHA:329918
Keratolytic Winter Erythema
Pustule ORPHA:50943
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,... OMIM:208900
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Papa Syndrome
Increased circulating antibody level, Skin ulcer ORPHA:69126
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... ORPHA:330058
Schnitzler Syndrome
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia ORPHA:37748
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis OMIM:603165
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Thymoma
Fever, Non-Hodgkin lymphoma, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymp... ORPHA:99867
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Acquired Ichthyosis
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections ORPHA:454
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ... OMIM:615468
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Necrobiosis Lipoidica
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology ORPHA:542592
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Skin ulcer, System... ORPHA:464343
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypothermia, Lacticaciduria, Respiratory insufficiency, Methylmalo... OMIM:245400
Immunodeficiency 56
Recurrent respiratory infections, Recurrent pneumonia, Recurrent infections, Panhypogammaglobulin... OMIM:615207
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... OMIM:615952
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Chilblain Lupus 1
Antinuclear antibody positivity, Skin ulcer OMIM:610448
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level OMIM:615508
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased circulating IgG level, Hypoalbuminemia, Hypotriglyceridemia, ... ORPHA:2298
Elastoderma
Erysipelas, Eczema ORPHA:228240
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... OMIM:613385
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... ORPHA:64745
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia, Respiratory insufficiency OMIM:614654
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia OMIM:608184
Dracunculiasis
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis ORPHA:231
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... ORPHA:90363
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota... OMIM:210900
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Asthma, Recurrent pneumonia, Decreased cir... OMIM:619750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Meningitis, Thrombocyt... ORPHA:3392
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Ataxia-Telangiectasia
Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level ORPHA:100
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, Splenomegaly, ... ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Recu... ORPHA:353298
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... OMIM:620005
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-like hyperkera... OMIM:602540
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... ORPHA:179494
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... ORPHA:3243
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Lupus anticoagulant, Hepatosplenomegaly, Decreased circ... OMIM:615688
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Q Fever
Antiphospholipid antibody positivity, Rheumatoid factor positive, Unusual infection, Anticardioli... ORPHA:781
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Classic Mycosis Fungoides
Splenomegaly, Erythema, Skin ulcer, Abnormal lymphocyte morphology, Dry skin ORPHA:2584
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:226313
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Recurrent i... OMIM:619381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Pellagra-Like Syndrome
Skin rash OMIM:260650
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma OMIM:604777
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Partial development of the p... OMIM:608800
Meningococcal Meningitis
Fever, Renal insufficiency, Neonatal respiratory distress, Hypothermia, Elevated circulating C-re... ORPHA:33475
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis ORPHA:79151
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia ORPHA:33110
Igg4-Related Kidney Disease
Rheumatoid factor positive, Eosinophilia, Increased circulating IgG4 level, Antinuclear antibody ... ORPHA:449395
Livedoid Vasculopathy
Pancytopenia, Autoimmunity, Antinuclear antibody positivity, Leukocytosis, Abnormality of complem... ORPHA:542643
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti... ORPHA:64744
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... ORPHA:293173
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Elevated circulating creatine kinase concent... ORPHA:26793
Macrocephaly/Autism Syndrome
Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,... OMIM:605309
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Hypothermia, Goiter, Elevated circ... ORPHA:90673
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level ORPHA:3162
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Timothy Syndrome
Pneumonia, Hypothermia, Hypocalcemia, Pulmonary arterial hypertension, Hypothyroidism OMIM:601005
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmu... OMIM:615387
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine con... ORPHA:159
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Dyspnea, Elevated urinary dopamine level, Elevated circulating creatinine concentrat... ORPHA:230
Inflammatory Pseudotumor Of The Liver
Fever, Increased hepatitis B virus antibody level, Diabetes mellitus, Elevated circulating alpha-... ORPHA:90003
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Igg4-Related Ophthalmic Disease
Antinuclear antibody positivity, Increased circulating IgE level, Eosinophilia, Increased circula... ORPHA:449563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Thrombocytosi... OMIM:226300
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
Rift Valley Fever
Severe viral infection, Anemia, Increased circulating IgG level, Increased circulating IgM level,... ORPHA:319251
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Paraproteinemi... ORPHA:439232
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Hypothermia, Goiter, Pituitary h... ORPHA:90674
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Tick-Borne Encephalitis
Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu... ORPHA:297
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Recurrent infe... ORPHA:88
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Recurrent infections, Anemia, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Congenital Enterovirus Infection
Respiratory distress, Fever, Hypothermia, Hyperammonemia, Hypoalbuminemia, Pleural effusion ORPHA:292
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash OMIM:620321
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Zika Virus Disease
Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis ORPHA:448237
Ring Chromosome 21 Syndrome
Diabetes insipidus, Decreased circulating antibody level ORPHA:1445
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Juvenile Arthritis
Skin rash OMIM:618795
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia ORPHA:848
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity, Recurrent viral infections ORPHA:83600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis OMIM:612281
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Palmoplantar keratoderma, Blepharitis, Eczema OMIM:618535
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic aciduria, Hypoalb... OMIM:618329
Aplasia Cutis-Myopia Syndrome
Meningitis, Skin ulcer ORPHA:1117
Brucellosis
Liver abscess, Lung abscess, Rheumatoid factor positive, Hypersplenism, Thrombocytopenia, Leukocy...