Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... |
OMIM:615615 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... |
OMIM:300400 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Short stature, Decreased circulating antibody l... |
OMIM:617744 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Incr... |
ORPHA:277 |
Immunodeficiency 48 |
|
Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatiti... |
OMIM:269840 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ... |
ORPHA:90280 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... |
ORPHA:542592 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, I... |
OMIM:618282 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections |
OMIM:614372 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating ... |
OMIM:618108 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of CD25+ mast ce... |
ORPHA:98848 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukope... |
ORPHA:33355 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... |
OMIM:618985 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Perianal abscess, Splenomeg... |
OMIM:618935 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating... |
OMIM:615758 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Eczema, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone... |
OMIM:618116 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopeni... |
OMIM:619510 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent skin infections, Ventricular septal defect, Short stature, Postnatal growt... |
OMIM:620210 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Subarachno... |
OMIM:243700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circu... |
ORPHA:98813 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair... |
OMIM:308230 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... |
ORPHA:158061 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Increased circulating IgE level, Recu... |
OMIM:619752 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, D... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Hypertension, Failure to thrive |
OMIM:616069 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, ... |
ORPHA:353298 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat... |
OMIM:619693 |
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 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... |
ORPHA:70578 |
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 12 |
|
Skin rash, Abnormal lymphocyte count, Short stature, Decreased lymphocyte proliferation in respon... |
OMIM:615468 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... |
OMIM:147060 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... |
ORPHA:275 |
Schnitzler Syndrome |
|
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Increased circulating IgM level, Art... |
ORPHA:37748 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Failure to thrive in infancy |
OMIM:619175 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... |
OMIM:618131 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... |
OMIM:242700 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... |
OMIM:618523 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Neu... |
OMIM:209920 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Diffuse ... |
ORPHA:178320 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... |
ORPHA:169154 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233690 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... |
ORPHA:47 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Increas... |
ORPHA:3392 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrop... |
OMIM:260570 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Myocarditis, Hepatit... |
ORPHA:829 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Peeling Skin Syndrome 1 |
|
Short stature, Eosinophilia, Pruritus, Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Pruritus |
ORPHA:280785 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Short stature, Reduced natural killer cell activity, ... |
OMIM:616050 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Abnormal heart valve morphology,... |
ORPHA:781 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Decreased circulating IgG2 leve... |
OMIM:102700 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight los... |
ORPHA:139402 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Weight loss,... |
ORPHA:47612 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis... |
ORPHA:167 |
Netherton Syndrome |
|
Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating Ig... |
OMIM:256500 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight lo... |
OMIM:617321 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... |
ORPHA:330058 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... |
OMIM:618963 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... |
OMIM:617099 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:306400 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Hematochezia, Pyoderma, Colitis, Cro... |
OMIM:613148 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p... |
OMIM:615952 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Impaired T cell f... |
OMIM:613179 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Increased circulating IgM level, Arthritis, Conjunc... |
ORPHA:448237 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Pruritus, Spl... |
ORPHA:98849 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Failure to thrive, Skin rash, Increased circulating IgA level, Pustule, Raynaud phenome... |
OMIM:615934 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... |
ORPHA:1304 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Abnormal pericardi... |
ORPHA:183 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Impaired T cell function, Abnormal cortical gyration, Sp... |
OMIM:614576 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abscess, Eosinophi... |
OMIM:615816 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Hepat... |
ORPHA:292 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Orotic Aciduria |
|
Ventricular septal defect, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Increased circulating IgG level, Incr... |
ORPHA:83313 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... |
ORPHA:36234 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas... |
OMIM:170100 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... |
OMIM:619858 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Anemia, Arthritis, Panniculitis,... |
OMIM:617591 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, ... |
ORPHA:398124 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch... |
ORPHA:1830 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuc... |
OMIM:169400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ... |
OMIM:608068 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi... |
ORPHA:77297 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A... |
ORPHA:3099 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... |
OMIM:620321 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellularity, Hy... |
ORPHA:549 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... |
ORPHA:83471 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Netherton Syndrome |
|
Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody... |
ORPHA:634 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Anemia, Malar rash, Serositis, Thromb... |
ORPHA:231111 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infec... |
ORPHA:3386 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Palpitations |
ORPHA:206569 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Vasculitis, Weight loss, Arthr... |
ORPHA:324964 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Sh... |
ORPHA:811 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Patent foramen ovale, Infectious encephalitis, Short stature, Autoimmune throm... |
ORPHA:391487 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Splenomegaly, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le... |
ORPHA:99827 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Myocardial infarction, Splenomegal... |
ORPHA:3452 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Sple... |
ORPHA:809 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Pruritus, Myocarditis, Ker... |
ORPHA:81 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Eczema, Short stature, Large for gestational age, M... |
OMIM:615355 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Vasculiti... |
ORPHA:228123 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Vici Syndrome |
|
Lymphopenia, Atrial septal defect, Failure to thrive, Left ventricular hypertrophy, Postnatal gro... |
OMIM:242840 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Weight loss,... |
OMIM:212750 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Leukocytosis, Dilated... |
OMIM:615688 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... |
ORPHA:486 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Short stature, Failure to thrive in ... |
OMIM:610377 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Growth delay, Arthritis, Anemia |
OMIM:607115 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... |
ORPHA:2848 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta... |
ORPHA:39812 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Chroni... |
ORPHA:2314 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, Ventricular septal defe... |
ORPHA:26793 |
Say-Barber-Miller Syndrome |
|
Short stature, Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased ci... |
ORPHA:3132 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Small for gestational age, Pruritus, Pruritus on foot, Abnormal circulating interleuki... |
ORPHA:69665 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... |
ORPHA:2552 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Pericardial ... |
OMIM:619487 |
Hennekam-Beemer Syndrome |
|
Short stature, Pneumonia, Telangiectasia of the skin, Pruritus, Hypotension, Mastocytosis, Arrhyt... |
ORPHA:2135 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Constrictive pericarditis |
OMIM:208250 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Bloom Syndrome |
|
Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce... |
ORPHA:125 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Thrombocytopenia, C... |
ORPHA:508542 |
Shigellosis |
|
Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit... |
ORPHA:810 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... |
ORPHA:32960 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... |
OMIM:619381 |
Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Fulminant hepatitis, Subcon... |
ORPHA:319213 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ... |
ORPHA:2331 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hemolytic anemia, Chilblains, Pericardial effusion, Vasculitis, Hepatitis, He... |
OMIM:615846 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... |
ORPHA:73263 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Keratoconjunctivitis, Growth delay, Weight loss, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Atopic dermati... |
ORPHA:171876 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Acute colitis, Abnormal pericardium morphology, Congestive heart fai... |
ORPHA:67 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Abnormality of serum c... |
ORPHA:94059 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Failure to thrive, Pericardial effusion, Cardiomyopathy, Thrombocytosis, Decreased ... |
OMIM:212065 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Raynaud phenomen... |
ORPHA:3260 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas... |
ORPHA:90291 |
Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Maculo... |
ORPHA:99826 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Leukocytosis, Congestive heart failure, Cheilitis, Uveitis, Obesity, Arthrit... |
ORPHA:247353 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6 concentration... |
ORPHA:544482 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth d... |
ORPHA:79284 |
Progeroid Short Stature With Pigmented Nevi |
|
Bicuspid aortic valve, Allergic rhinitis, Impaired T cell function, Short stature, Small for gest... |
OMIM:176690 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity, Orthos... |
ORPHA:66628 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Pancytopenia, Skin rash, Dextrocardia, Short stature, Megaloblastic anemia,... |
OMIM:277380 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:603553 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Failure to thrive |
OMIM:612714 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... |
ORPHA:293173 |
Relapsing Polychondritis |
|
Episcleritis, Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye... |
OMIM:614162 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity, Orthos... |
ORPHA:179494 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Hemolytic anemia, Eczema |
OMIM:177000 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pruritus, Splenomegaly, Pustule, Myocarditis, Vasculitis, Weight loss, Anemia, Leukope... |
ORPHA:50918 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Splenomegaly, Iridocyclitis... |
OMIM:181000 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... |
ORPHA:900 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failu... |
OMIM:615895 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to thrive in infancy, Pustule, Splenomeg... |
OMIM:612852 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... |
ORPHA:398063 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, I... |
ORPHA:29207 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Severe postnatal growth retardation, Abnormality of T cell physiology, Psoriasiform dermatitis, A... |
ORPHA:2237 |
B4Galt1-Cdg |
|
Splenomegaly, Inflammatory abnormality of the skin, Small for gestational age |
ORPHA:79332 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... |
OMIM:256040 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Failure to thrive, Short stature, Impaired T cell function |
OMIM:201100 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Abnormal heart valve morpho... |
ORPHA:31204 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's... |
OMIM:249100 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Eczema, Decreased circulating total IgM, Atrial septal defect |
OMIM:618162 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level... |
ORPHA:90363 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Anemia, Increased circulating IgG... |
ORPHA:319251 |
Giant Cell Arteritis |
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Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Arthritis, Cerebral ische... |
ORPHA:397 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... |
ORPHA:342 |
Dermatomyositis |
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Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Sapho Syndrome |
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Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... |
ORPHA:793 |
Epidermodysplasia Verruciformis |
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Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Colchicine Poisoning |
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Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock,... |
ORPHA:31824 |
Kid Syndrome |
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Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Insulin-Resistance Syndrome Type B |
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Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis... |
ORPHA:2298 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Hematochezia, Subconj... |
OMIM:617718 |
Arterial Tortuosity Syndrome |
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Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Gamma-Heavy Chain Disease |
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Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... |
ORPHA:93317 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abno... |
ORPHA:565612 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Congenital Disorder Of Glycosylation, Type Im |
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Failure to thrive, Inflammatory abnormality of the skin, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Yellow Fever |
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Shock, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentra... |
ORPHA:99829 |
Pemphigus Foliaceus |
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Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Hereditary Orotic Aciduria |
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Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Hypoplasia of the thymus, Atrial septal defect, Chronic otitis media, A... |
ORPHA:567 |
Centrifugal Lipodystrophy |
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Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... |
ORPHA:83617 |
Blau Syndrome |
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Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Velocardiofacial Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Impaired T cell function, Short stature |
OMIM:192430 |
Scorpion Envenomation |
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Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... |
ORPHA:466677 |
Von Hippel-Lindau Disease |
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Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W... |
ORPHA:91500 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Leptospirosis |
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Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh... |
ORPHA:509 |
African Trypanosomiasis |
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Abnormal EKG, Pericarditis, Keratitis, Splenomegaly, Myocarditis, Pruritus, Congestive heart fail... |
ORPHA:3385 |
Digeorge Syndrome |
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Acne, Impaired T cell function, Ventricular septal defect, Seborrheic dermatitis, Short stature, ... |
OMIM:188400 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia, Focal ... |
OMIM:250220 |
Aymé-Gripp Syndrome |
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Pericardial effusion, Pericarditis, Postnatal growth retardation, Short stature |
ORPHA:1272 |
Neonatal Inflammatory Skin And Bowel Disease |
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Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Left ventricu... |
ORPHA:294023 |
Tetrasomy 9P |
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Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Arthritis, Pulmonary arterial hypertens... |
ORPHA:3310 |
Malakoplakia |
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Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation |
ORPHA:556 |
Ayme-Gripp Syndrome |
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Pericarditis, Short stature |
OMIM:601088 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin... |
ORPHA:95455 |
Pmm2-Cdg |
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Pericarditis, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Aspiration pneumoni... |
ORPHA:79318 |