| Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... |
OMIM:613502 |
| Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
| Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
| Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... |
OMIM:615285 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
| Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... |
OMIM:193670 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... |
OMIM:619220 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... |
ORPHA:572 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Chronic bronchitis, Neutropenia, Severe varicella zoster infection, Hepatosplenomegaly, P... |
OMIM:618986 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutrop... |
OMIM:209920 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Thrombocytopenia |
OMIM:617443 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... |
OMIM:614470 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Decreased circulating IgA level... |
OMIM:606367 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
| Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Pulmonary edema, Abnormal s... |
ORPHA:70578 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia |
OMIM:614204 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
| X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
| Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Candidiasis, Familial, 2 |
|
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... |
OMIM:212050 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... |
OMIM:150550 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Pulmonary edema, Ly... |
OMIM:617300 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... |
ORPHA:33110 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... |
ORPHA:324964 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Immunodeficiency 55 |
|
Eczema, Recurrent skin infections, Neutropenia, Recurrent infections |
OMIM:617827 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent sinopulmonary infections, Re... |
OMIM:243700 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... |
ORPHA:169160 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... |
ORPHA:79147 |
| Immunodeficiency 88 |
|
Eosinophilia, BCGosis |
OMIM:619630 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
| Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Recurrent infections |
OMIM:616271 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Edema, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunct... |
OMIM:603552 |
| Immunodeficiency 17 |
|
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Recurrent infections, Recurrent tonsillitis, Onychomycosis, Splen... |
OMIM:618935 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly |
OMIM:269840 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Pleuritis, Recurrent infections, Splenomega... |
ORPHA:47612 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... |
OMIM:615577 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:37042 |
| Cyclic Neutropenia |
|
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe... |
ORPHA:2686 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of interleu... |
ORPHA:542323 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Recurrent skin infections |
OMIM:617744 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circ... |
OMIM:308230 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Thrombocytopenia |
OMIM:606593 |
| Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen... |
ORPHA:331235 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233710 |
| Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Edema, Arthritis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema |
ORPHA:3165 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... |
OMIM:618282 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... |
ORPHA:183675 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Pgm3-Cdg |
|
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... |
ORPHA:443811 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Pneumonia |
OMIM:617638 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
ORPHA:2643 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Pulmonary edema, Pedal edema, Pleural effu... |
ORPHA:188 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Oligoarthritis, Pruritus, Sacroiliac arthritis, Anterior uveitis, Iridoc... |
ORPHA:85436 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... |
ORPHA:75564 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... |
ORPHA:90280 |
| Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
| Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233690 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... |
OMIM:604173 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal inflammatory response, Chronic active Epstein-Barr virus infection, Neutropenia, Abnorma... |
ORPHA:158048 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Recurrent otitis media, Incre... |
ORPHA:277 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia |
OMIM:243150 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... |
ORPHA:47 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
| Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
| Psoriasis 2 |
|
Psoriasiform dermatitis |
OMIM:602723 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... |
OMIM:614700 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Recurrent otitis media, Decreased circulating antibody l... |
ORPHA:293978 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
OMIM:251190 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
| Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Arthritis, Splenomegaly, Uveitis, Skin rash |
ORPHA:92 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
| Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
| Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
| Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
| Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Respiratory tract infection, Pulmonary edema, Pneumonia |
ORPHA:70587 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating total IgA, Decreased specific a... |
ORPHA:221139 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology |
ORPHA:724 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... |
ORPHA:231154 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... |
ORPHA:158061 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
| Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Fetal ascites, Sepsis, Neutropenia, Infectious encephalitis, Leukopeni... |
ORPHA:292 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Ane... |
OMIM:304790 |
| Respiratory Distress Syndrome In Premature Infants |
|
Edema, Pulmonary edema |
OMIM:267450 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis |
ORPHA:79481 |
| Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... |
OMIM:147060 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre... |
OMIM:616576 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Recurrent infections |
OMIM:615387 |
| Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Severe varicella zoster infection, Bronchiectasis, Absces... |
OMIM:615816 |
| Aspergillosis |
|
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Pleuritis,... |
ORPHA:1163 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology |
ORPHA:2582 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Anemia, Splenomegaly, Acute myel... |
ORPHA:158057 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia, Edema |
OMIM:600351 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia, Recurrent infections |
OMIM:617056 |
| Retinal Venous Beading |
|
Edema, Nephritis, Neutropenia |
OMIM:180080 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Slc35A1-Cdg |
|
Neutropenia, Pneumonia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thromb... |
ORPHA:238459 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Recurr... |
OMIM:608809 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma |
OMIM:615508 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
| Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... |
ORPHA:540 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... |
ORPHA:911 |
| Whim Syndrome |
|
Sinusitis, Sepsis, Recurrent bacterial infections, Neutropenia, Pneumonia, Bronchiectasis, Lympha... |
ORPHA:51636 |
| Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Eczema, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic an... |
OMIM:617780 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia |
OMIM:618963 |
| Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:607271 |
| Fusariosis |
|
Sinusitis, Brain abscess, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... |
ORPHA:228119 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... |
ORPHA:88 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Emphysema, Bronchiectasis |
ORPHA:1164 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... |
OMIM:618523 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Splenomegaly |
OMIM:619175 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrops fetalis |
OMIM:616738 |
| Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Barth Syndrome |
|
Granulocytopenia, Recurrent infections in infancy and early childhood, Neutropenia |
OMIM:302060 |
| Neonatal Alloimmune Neutropenia |
|
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... |
ORPHA:464370 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... |
OMIM:616098 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Neutrop... |
OMIM:613179 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia, Arthritis |
OMIM:604250 |
| Kid Syndrome |
|
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... |
ORPHA:477 |
| Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
| Pelger-Huet Anomaly |
|
Eczema, Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platele... |
OMIM:169400 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... |
ORPHA:276 |
| Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... |
OMIM:603554 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Abnorm... |
ORPHA:199241 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorr... |
OMIM:603585 |
| Schnitzler Syndrome |
|
Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Dehydration |
ORPHA:79312 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Impaired p... |
ORPHA:2968 |
| Lymphoproliferative Syndrome 2 |
|
Sepsis, Severe varicella zoster infection, Ascites, Decreased circulating antibody level, EBV enc... |
OMIM:615122 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Wild Type Attr Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Pulmonary edema, Pleural effusion, Pedal edema |
ORPHA:330001 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Anemia, Abnormal mast cell morpho... |
ORPHA:98850 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Thrombocytopenia |
OMIM:618116 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... |
ORPHA:98848 |
| Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... |
ORPHA:33355 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Hepat... |
ORPHA:167 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
| Immunodeficiency 91 And Hyperinflammation |
|
BCGosis, Monocytosis, Edema, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, ... |
OMIM:619644 |
| Dracunculiasis |
|
Pruritus, Arthritis, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum |
OMIM:611762 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites, Pulmonary edema, Pleural effusion, Peripheral edema, Generalized edema |
ORPHA:64739 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Chronic oral candidiasis, Recurrent otitis media, Re... |
OMIM:608233 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema |
OMIM:154800 |
| Japanese Encephalitis |
|
Infectious encephalitis, Neutrophilia, Increased circulating antibody level, Cerebral edema, Incr... |
ORPHA:79139 |
| H Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Hepatosplenomegaly, Microcytic anemia,... |
ORPHA:168569 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
| Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis |
OMIM:616744 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Recurrent bacterial skin infections, Blepharitis |
ORPHA:294023 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Inflammation of th... |
ORPHA:3243 |
| Cinca Syndrome |
|
Leukocytosis, Anemia, Arthritis, Meningitis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia... |
OMIM:607115 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Neutropenia, Recurrent infections, Chronic irritative conjunctivitis, Lympho... |
OMIM:258360 |
| Immunodeficiency 31C |
|
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia |
OMIM:614162 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Recurrent respiratory infections, Peripheral edema |
ORPHA:75249 |
| Intermediate Uveitis |
|
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis |
ORPHA:279914 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Pericardial effusion, Ascites |
OMIM:115197 |
| Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis |
OMIM:234350 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Pulmonary edema, Pleural effusion, Thrombocytopenia, Hemolytic... |
ORPHA:244242 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Pneumonia, Decreased circulating Ig... |
OMIM:102700 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... |
OMIM:613470 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Ascites, Peritonitis, Edema, Neonatal sepsis, Thrombocytopenia |
ORPHA:391673 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis |
OMIM:603165 |
| Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis medi... |
ORPHA:3392 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
| Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... |
OMIM:609628 |
| Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Multipl... |
ORPHA:723 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Mem... |
ORPHA:49041 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Increased circulating interleukin 6, Tubulointerstitial nephritis, Pneumonia, Anemi... |
ORPHA:340 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
| Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... |
ORPHA:90045 |
| Sepsis In Premature Infants |
|
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Edema, Anemia, Splenomegaly, Diss... |
ORPHA:90051 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Angioedema, Decreased circulating IgG level, Hypernatremic dehyd... |
OMIM:256500 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Anemia, Splenomegaly, Malar rash, Aplastic anemia, Maculopapular exanthema, Skin ras... |
ORPHA:398124 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, T lymphoc... |
ORPHA:35078 |
| Shwachman-Diamond Syndrome |
|
Sinusitis, Sepsis, Eczema, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Oste... |
ORPHA:811 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Esophagitis, Recurrent otitis ... |
OMIM:612562 |
| Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Eczema |
OMIM:233810 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis |
OMIM:120100 |
| Wells Syndrome |
|
Eosinophilia, Edema |
ORPHA:901 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Nephritis, Bone marrow hy... |
OMIM:617303 |
| Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Monocl... |
ORPHA:555905 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... |
OMIM:615207 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Rectal abscess,... |
ORPHA:436252 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... |
OMIM:242900 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Stomatitis, Anemia, Pancytopenia, Throm... |
ORPHA:520 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Chronic otitis media, Bone marrow hypocellularity, Splenomegaly, My... |
ORPHA:3226 |
| Letterer-Siwe Disease |
|
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:246400 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... |
ORPHA:508542 |
| Classic Mycosis Fungoides |
|
Eczema, Pruritus, Abnormal lymphocyte morphology, Splenomegaly, Skin rash |
ORPHA:2584 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Increased circulating interleukin 6, Panniculitis, Anemia, Acne inversa |
OMIM:608068 |
| Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Pericarditis, Hepatitis, Bone marrow hypocellularity, Arthritis, Pleur... |
ORPHA:829 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
| Propionic Acidemia |
|
Eczema, Neutropenia, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia, Dehydration |
OMIM:606054 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... |
ORPHA:906 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Immunodeficiency 92 |
|
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... |
OMIM:619652 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Hepa... |
OMIM:618999 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... |
OMIM:152700 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... |
OMIM:617099 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Sepsis, Leukopenia, Pneumonia, Pneumothorax, Pleural empyema, Neutrophilia, Acute i... |
ORPHA:36238 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Stomatitis, Megaloblastic anemia, Recurrent infections, Skin rash |
ORPHA:79284 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Recurre... |
ORPHA:391487 |
| Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... |
ORPHA:3261 |
| Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... |
OMIM:301000 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Pneumonia, Recurrent otitis media, Joint swelling, Autoimmune thrombocytopenia, Rheu... |
OMIM:607944 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections |
ORPHA:79503 |
| Omenn Syndrome |
|
Leukocytosis, Sepsis, Erythroderma, Pneumonia, Edema, Abnormal lymphocyte morphology, Anemia, Spl... |
ORPHA:39041 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Ascites |
OMIM:261740 |
| Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Neutropenia, Spleno... |
OMIM:617050 |
| Cirrhotic Cardiomyopathy |
|
Peripheral edema, Pulmonary edema, Ascites |
ORPHA:57777 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... |
ORPHA:1830 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... |
ORPHA:36234 |
| Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration |
OMIM:251110 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema, Hemolytic anemia |
OMIM:177000 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... |
ORPHA:77297 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Thin skin |
ORPHA:1658 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Neutropenia, Stomatitis, Megaloblastic anemia, Skin rash, Pancytopenia, Thrombocytopenia |
OMIM:277380 |
| Wolcott-Rallison Syndrome |
|
Neutropenia, Ascites, Iron deficiency anemia, Recurrent infections, Lymphocytosis, Dehydration |
ORPHA:1667 |
| Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Increased... |
OMIM:615934 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Eczema, Erythroderma, Pustule |
ORPHA:2897 |
| Roifman Syndrome |
|
Eczema, Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly, Recurre... |
ORPHA:353298 |
| Ethylene Glycol Poisoning |
|
Gastritis, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
| Absence Of The Pulmonary Artery |
|
Bronchiectasis, Pulmonary edema, Recurrent pneumonia, Recurrent respiratory infections, Pulmonary... |
ORPHA:980 |
| Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent skin infections, Extramedullary... |
OMIM:612840 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
| Methylmalonic Acidemia With Homocystinuria |
|
Skin rash |
ORPHA:26 |
| Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration |
OMIM:251100 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... |
OMIM:617591 |
| Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... |
ORPHA:83313 |
| Immunodeficiency 49 |
|
Inflammatory abnormality of the skin, Eosinophilia, Lymphopenia |
OMIM:617237 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Pneumothorax, Pulmonary edema, Diffuse alveolar hemorrhage, Glomeru... |
ORPHA:90068 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:79278 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... |
OMIM:301054 |
| Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Ascites, Edema, Anemia, Eosinophilia |
ORPHA:2070 |
| Zygomycosis |
|
Sinusitis, Myocarditis, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Gastritis, Pericarditis... |
ORPHA:73263 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:614520 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Myositis |
OMIM:253600 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Hypersensitivity pneumonitis, Increased circulating IgE level, H... |
ORPHA:2902 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity |
ORPHA:445038 |
| Amyloidosis, Familial Visceral |
|
Skin rash, Splenomegaly |
OMIM:105200 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Psoriasiform dermatitis, Blepharitis |
ORPHA:69085 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... |
OMIM:260400 |
| Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... |
OMIM:618131 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent... |
OMIM:260920 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Recurrent infections |
OMIM:618092 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Skin rash, Enterocolitis, Pancytopenia, ... |
OMIM:616050 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis |
ORPHA:567544 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus |
ORPHA:90158 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
| Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Pruritus, Abnormality of serum cytokine level, Recurrent sk... |
ORPHA:94059 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Recurrent infections, Osteomyelitis, Increased circulating IgE leve... |
ORPHA:2314 |
| Acquired Ichthyosis |
|
Pruritus, Recurrent skin infections |
ORPHA:454 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema |
OMIM:615895 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis |
ORPHA:79148 |
| Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
| Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Recurrent skin infections, Monocytosis |
OMIM:610680 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Pustule |
OMIM:616069 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Abnormal lung morphology, Liver abscess |
ORPHA:54251 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... |
OMIM:600903 |
| Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections |
OMIM:617941 |
| Toxic Epidermal Necrolysis |
|
Sepsis, Neutropenia, Anemia, Pancreatitis, Abnormal pleura morphology, Thrombocytopenia, Recurren... |
ORPHA:537 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash |
ORPHA:889 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis |
ORPHA:2237 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
| Roifman Syndrome |
|
Eczema, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinophilia |
OMIM:616651 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Decreased proportion of class-switched memory B cells, Decreased cir... |
OMIM:233600 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... |
ORPHA:31205 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia, Recurrent infections |
OMIM:615471 |
| Scorpion Envenomation |
|
Myocarditis, Edema, Pulmonary edema, Acute pancreatitis |
ORPHA:466677 |
| Good Syndrome |
|
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent skin infection... |
ORPHA:169105 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Neutropenia, Pustule, Leukopenia, Anemia, Splenomegaly, Meningitis, Malar rash, Lymp... |
ORPHA:50918 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Acute myeloid leukemia |
OMIM:601347 |
| Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Unusual infection, Increased c... |
ORPHA:400 |
| Glycogen Storage Disease Ib |
|
Neutropenia, Recurrent bacterial infections, Gout, Pancreatitis |
OMIM:232220 |
| Cholestasis-Lymphedema Syndrome |
|
Erysipelas, Splenomegaly |
OMIM:214900 |
| Trichothiodystrophy |
|
Keratoconjunctivitis sicca, Eczema, Neutropenia, Recurrent bronchopulmonary infections, Anemia, R... |
ORPHA:33364 |
| Zika Virus Disease |
|
Infectious encephalitis, Pruritus, Arthritis, Increased circulating IgM level, Maculopapular exan... |
ORPHA:448237 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Truncus Arteriosus |
|
Abnormal lung lobation, Hypoplasia of the thymus, Pulmonary artery hypoplasia, Pulmonary edema, P... |
ORPHA:3384 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia, Bone marrow hypocellularity |
OMIM:609053 |
| Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocyto... |
OMIM:313900 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia, Skin rash |
ORPHA:1059 |
| Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Anemia, Splenomegaly, Increased circulating antibody level, Recurrent p... |
OMIM:170100 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Splenomegaly, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash |
ORPHA:85414 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... |
ORPHA:100026 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Skin rash, Pulmonary fib... |
OMIM:612852 |
| Familial Mediterranean Fever |
|
Leukocytosis, Pericarditis, Peritonitis, Pleuritis, Arthritis, Splenomegaly, Crohn's disease, Neu... |
OMIM:249100 |
| Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash |
OMIM:617321 |
| Dermatitis Herpetiformis |
|
Pruritus, Eczema, Microcytic anemia |
ORPHA:1656 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Normocytic anemia, Iron deficiency anemi... |
ORPHA:398063 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Pulmonary edema, Pericardial effusion |
ORPHA:73224 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne |
OMIM:612847 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
| Familial Benign Copper Deficiency |
|
Anemia, Acne |
ORPHA:1551 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Thin skin |
ORPHA:1810 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Eczema |
ORPHA:2101 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
| Bazex Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa |
OMIM:301845 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating IgE leve... |
ORPHA:449400 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia |
OMIM:617425 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
| Dermatomyositis |
|
Myocarditis, Pericarditis, Lung adenocarcinoma, Edema, Arthritis, Abnormal eosinophil morphology,... |
ORPHA:221 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia, Polyhydramnios |
OMIM:618005 |
| Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Peripheral pulmonary artery stenosis, Recurrent cutaneous abscess formation, Recurre... |
ORPHA:163956 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Eczema, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
| Tako-Tsubo Cardiomyopathy |
|
Pulmonary edema |
ORPHA:66529 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Anemia of inadequate production |
OMIM:612714 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... |
OMIM:227645 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Recurrent infection... |
ORPHA:228426 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
| Dengue Fever |
|
Pruritus, Skin rash, Leukopenia, Thrombocytopenia |
ORPHA:99828 |
| Familial Male-Limited Precocious Puberty |
|
Acne |
ORPHA:3000 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Myositis, Leukopenia, Discoid lupus rash, Nephritis, Arthritis... |
ORPHA:93552 |
| Acral Peeling Skin Syndrome |
|
Eczema |
ORPHA:263534 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Eczema, Thrombocytosis, Leukopenia, Decreased circulating antibody level, Panniculi... |
OMIM:615688 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunctivitis |
OMIM:142680 |
| Classic Hodgkin Lymphoma |
|
Pruritus, Skin rash, Splenomegaly |
ORPHA:391 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Muckle-Wells Syndrome |
|
Episcleritis, Anemia, Arthritis, Splenomegaly, Uveitis, Skin rash, Recurrent aphthous stomatitis,... |
ORPHA:575 |
| Rothmund-Thomson Syndrome |
|
Neutropenia, Leukemia, Anemia, Facial edema, Malar rash, Skin rash, Aplastic anemia |
ORPHA:2909 |
| Cranio-Osteoarthropathy |
|
Eczema, Osteoarthritis, Arthritis |
ORPHA:1525 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Anemia, Skin rash, Splenomegaly |
ORPHA:290 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular ... |
ORPHA:284426 |
| Leigh Syndrome |
|
Anemia, Eczema, Severe viral infection, Neutropenia |
ORPHA:506 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Keratitis, Olig... |
ORPHA:525731 |
| Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... |
ORPHA:634 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level, Leukocytosis, Chronic lymphocytic meningitis, Recurrent otitis m... |
ORPHA:99843 |
| Ulerythema Ophryogenesis |
|
Contact dermatitis, Acne |
ORPHA:3406 |
| Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Abnormality o... |
ORPHA:379 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Fibrocystic lung disease, Eosi... |
OMIM:158310 |
| Coccidioidomycosis |
|
Pleural empyema, Unusual CNS infection, Eosinophilia, Morbilliform rash, Pericarditis, Folliculit... |
ORPHA:228123 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Erysipelas |
OMIM:615704 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Microcytic anemia |
OMIM:612379 |
| Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
