Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T cell function, Recu... |
ORPHA:277 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... |
ORPHA:217390 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... |
OMIM:615767 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Onychomycosis |
OMIM:212050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... |
OMIM:619220 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... |
OMIM:606843 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
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 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma |
OMIM:147050 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... |
OMIM:618523 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Increased circulating IgE level, ... |
ORPHA:2902 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... |
OMIM:617241 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... |
OMIM:618534 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Pgm3-Cdg |
|
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... |
OMIM:102700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... |
OMIM:312863 |
Caspase 8 Deficiency |
|
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... |
OMIM:615285 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased circulating a... |
OMIM:618495 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... |
ORPHA:169160 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... |
OMIM:613502 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... |
OMIM:193670 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma,... |
OMIM:606367 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... |
OMIM:256500 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Neutropenia, Infectious encephalitis, Pneumonia, Bronch... |
ORPHA:1163 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Acute Lung Injury |
|
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Hypoxemia, Pneu... |
ORPHA:178320 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... |
OMIM:617744 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... |
OMIM:614470 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... |
OMIM:609529 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... |
OMIM:601859 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Hypoxemia, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal blood g... |
ORPHA:70578 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respiratory infec... |
OMIM:618986 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... |
OMIM:269840 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... |
OMIM:308230 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... |
ORPHA:540 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections |
OMIM:616911 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... |
OMIM:304790 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... |
OMIM:613500 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Recurrent infections, Cough, Osteomyelitis, Increased circulating I... |
ORPHA:2314 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Asthma |
OMIM:270300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... |
OMIM:301000 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... |
ORPHA:3243 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... |
ORPHA:572 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... |
OMIM:601457 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... |
OMIM:616100 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Recurrent infections, Increased circu... |
ORPHA:634 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ce... |
OMIM:615559 |
Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... |
ORPHA:83313 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... |
OMIM:300310 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Increa... |
ORPHA:90280 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an... |
OMIM:617780 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Tachypnea, Anemia... |
OMIM:615934 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... |
OMIM:618261 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Recurrent bronchitis, Bronchiectasis, Recurrent ... |
OMIM:300853 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Myocarditis, Increased circulating interleukin 6, Pneumonia, Acute c... |
ORPHA:544482 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
ORPHA:2643 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level, Recurrent infections, Skin rash |
OMIM:618048 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... |
OMIM:616098 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
OMIM:251190 |
Immunodeficiency 8 |
|
Recurrent respiratory infections, Lymphopenia |
OMIM:615401 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level, Asthma |
OMIM:208600 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... |
OMIM:614700 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Respiratory distress, Increased circulatin... |
ORPHA:3392 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... |
OMIM:616005 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... |
OMIM:613101 |
Reticular Dysgenesis |
|
Sepsis, Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash... |
ORPHA:33355 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,... |
OMIM:178500 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Epistaxis, Intermittent ... |
OMIM:313900 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia |
OMIM:615617 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... |
OMIM:613011 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... |
OMIM:613496 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Apnea,... |
OMIM:608809 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... |
OMIM:209920 |
Tempi Syndrome |
|
Hypoxemia, Polycythemia, Increased circulating IgG level, Transudative pleural effusion, Increase... |
ORPHA:284227 |
Leishmaniasis |
|
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... |
ORPHA:507 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... |
ORPHA:33110 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Lymphoproliferative Syndrome 2 |
|
Sepsis, Decreased circulating antibody level, Decreased lymphocyte proliferation in response to m... |
OMIM:615122 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnorm... |
ORPHA:330015 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Recurrent viral upper respiratory tract... |
OMIM:615577 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly |
OMIM:605309 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Hepatitis, Cough, Increased circulating antibody level, Lymphopenia, Acute pa... |
ORPHA:319218 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis... |
OMIM:267500 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM |
OMIM:300636 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent aspiration pneumonia, Recurrent ear infections, Recurrent viral infections, Anemia, Cou... |
ORPHA:79124 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... |
ORPHA:449432 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Eosinophilia, Increased circulating IgG1 level, Inflammatory abnorm... |
ORPHA:449395 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Prolidase Deficiency |
|
Eczema, Chronic lung disease, Anemia, Recurrent infections, Splenomegaly, Crusting erythematous d... |
OMIM:170100 |
Immunodeficiency 20 |
|
Wheezing, Recurrent oral herpes, Reduced natural killer cell activity, Recurrent otitis media, Re... |
OMIM:615707 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... |
OMIM:301045 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased circu... |
ORPHA:2137 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Myositis, Panniculitis, Anemia, Recurrent infections, Arthritis, Splenomegaly, Increas... |
OMIM:617591 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... |
OMIM:614878 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Tachypnea, A... |
ORPHA:542323 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis... |
ORPHA:449427 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Paraproteinemia, Reduced vital capacity |
ORPHA:171442 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lympha... |
ORPHA:51636 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... |
OMIM:617099 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Common Variable Immunodeficiency |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decreased circulating anti... |
ORPHA:1572 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobulin M proteinemi... |
ORPHA:91139 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Neonatal respiratory distress, Decreased circulating antibody level, Decreased circulating total ... |
ORPHA:221139 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... |
ORPHA:47 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... |
OMIM:615952 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Good Syndrome |
|
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent urinary... |
ORPHA:169105 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Recurrent... |
OMIM:260920 |
Ataxia-Telangiectasia |
|
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell diff... |
OMIM:208900 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Liver abscess, L... |
ORPHA:1304 |
Icf Syndrome |
|
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... |
ORPHA:2268 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... |
OMIM:307200 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis |
OMIM:178610 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... |
ORPHA:85436 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... |
OMIM:613179 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis |
OMIM:241600 |
Hereditary Folate Malabsorption |
|
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... |
ORPHA:90045 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
C3 Glomerulopathy |
|
Decreased serum complement C4, Recurrent infections, Paraproteinemia, Decreased serum complement ... |
ORPHA:329918 |
Coccidioidomycosis |
|
Pleural empyema, Eosinophilia, Morbilliform rash, Pericarditis, Folliculitis, Osteomyelitis, Skin... |
ORPHA:228123 |
Bloom Syndrome |
|
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Recur... |
OMIM:210900 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Immunodeficiency 58 |
|
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... |
OMIM:618131 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent upper respiratory tract infe... |
OMIM:615518 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Recurr... |
ORPHA:391487 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia |
OMIM:617425 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal inflammatory response, Abnormal cytokine signaling, Neutropenia, Anemia, Splenomegaly, A... |
ORPHA:158048 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Nephritis, Bone marrow hy... |
OMIM:617303 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Otitis media, Pan... |
OMIM:602450 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... |
ORPHA:29073 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... |
OMIM:242900 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... |
ORPHA:444463 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis |
OMIM:615190 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Recurrent herpes, Decreased circulating antibody level, Recurrent i... |
ORPHA:125 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6, Erythema nodosum, Episcleritis, Increased circulating IgA le... |
OMIM:256040 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Respiratory insufficiency |
OMIM:618042 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... |
OMIM:615207 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolit... |
OMIM:619164 |
Gaucher Disease Type 1 |
|
Leukopenia, Pulmonary arterial hypertension, Anemia, Splenomegaly, Hypersplenism, Increased circu... |
ORPHA:77259 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement fac... |
ORPHA:2298 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Rift Valley Fever |
|
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, Increased c... |
ORPHA:319251 |
Thymoma |
|
Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Glomerulonephritis, Myositis,... |
ORPHA:99867 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent infection of the gastrointestinal tract, Defective production of NFKB1-dependent cytoki... |
OMIM:612132 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... |
OMIM:242840 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Chronic otitis media, Bone marrow hypocellularity, Splenomegaly, My... |
ORPHA:3226 |
Trichinellosis |
|
Increased circulating IgE level, Skin rash, Conjunctivitis |
ORPHA:863 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal absce... |
OMIM:618935 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Recurrent respiratory infections |
DECIPHER:45 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly |
ORPHA:3162 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Increased circulating antibody... |
ORPHA:400 |
Q Fever |
|
Myocarditis, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, Endocarditis, He... |
ORPHA:781 |
Lassa Fever |
|
Sepsis, Cough, Increased circulating IgM level, Dyspnea, Conjunctivitis |
ORPHA:99824 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Sepsis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural e... |
ORPHA:36238 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Sepsis, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:233600 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hashimoto thyroiditis, Reduced forced expiratory volume in one second, Decreased circulating IgA ... |
OMIM:613385 |
Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media |
OMIM:618428 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent viral infections... |
ORPHA:293978 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... |
ORPHA:1302 |
Sepsis In Premature Infants |
|
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Abnormal respiratory system physi... |
ORPHA:90051 |
Zika Virus Disease |
|
Infectious encephalitis, Arthritis, Increased circulating IgM level, Maculopapular exanthema, Ski... |
ORPHA:448237 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Pneumonia, Iron deficiency anemia, Decreased circulating antibody level, Recurren... |
OMIM:226300 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Rhinitis, Chronic otitis m... |
ORPHA:47612 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Eczema, Leukopenia, Decreased circulating antibody level, Bone marr... |
OMIM:615688 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... |
OMIM:300972 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Erythema nodosum, Leukopenia, Epistaxis, Pulmonary arterial hypertensi... |
ORPHA:99827 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Hyperventilation, Recurrent viral infections |
ORPHA:83600 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti... |
ORPHA:289390 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Recurrent infectio... |
OMIM:610377 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
Alveolar Echinococcosis |
|
Cholangitis, Anemia, Cough, Abnormal spleen morphology, Increased circulating antibody level, Dys... |
ORPHA:284 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... |
OMIM:150550 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Eosinophilia, Lymphopenia |
ORPHA:2582 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... |
OMIM:300755 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Restrictive ventilatory defect, Pericarditis, Hepatitis, Bone marrow h... |
ORPHA:829 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... |
OMIM:612301 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:602668 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
ORPHA:1493 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating ... |
OMIM:619381 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Airway obstruction, Stridor, Leukopenia, Decreased circulating IgG level, Pulmonary arter... |
ORPHA:505248 |
Cyclic Neutropenia |
|
Sinusitis, Sepsis, Enterocolitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Rec... |
ORPHA:2686 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Hypoventilation |
OMIM:606056 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Respiratory insufficiency due to muscle weakness, Pulmonary arteria... |
ORPHA:2905 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infe... |
ORPHA:420741 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
Avian Influenza |
|
Productive cough, Sepsis, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, P... |
ORPHA:454836 |
Immunodeficiency 31C |
|
Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent respiratory infections, Autoimm... |
OMIM:614162 |
Alg12-Cdg |
|
B lymphocytopenia, Sepsis, Recurrent ear infections, Complete or near-complete absence of specifi... |
ORPHA:79324 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... |
ORPHA:79329 |
Legionnaires Disease |
|
Myocarditis, Sepsis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Inf... |
ORPHA:549 |
Sarcoidosis, Susceptibility To, 1 |
|
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... |
OMIM:181000 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Recurrent lower respiratory tract infections, Membranoproliferative glomerulonephrit... |
OMIM:619644 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level, Leukocytosis, Recurrent otitis media, Anemia, Recurrent infectio... |
ORPHA:99843 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Anemia, Splenomegaly, Increased circulating antibody level, Panc... |
ORPHA:77261 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Respiratory insufficiency, Leukopenia, Monoc... |
OMIM:612541 |
Cowden Syndrome 1 |
|
Thyroiditis, Decreased circulating antibody level, Recurrent infections, Lymphopenia |
OMIM:158350 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... |
ORPHA:48435 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis, Peritonitis |
ORPHA:343 |
Japanese Encephalitis |
|
Infectious encephalitis, Abnormal pattern of respiration, Respiratory paralysis, Neutrophilia, In... |
ORPHA:79139 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233710 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Igg4-Related Thyroid Disease |
|
Hashimoto thyroiditis, Thyroiditis, Increased circulating IgG4 level, Sclerosing cholangitis |
ORPHA:64744 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Asthma |
ORPHA:457485 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... |
ORPHA:79078 |
Hemochromatosis, Type 3 |
|
Anemia, Arthritis, Neutropenia, Lymphopenia |
OMIM:604250 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233690 |
Viss Syndrome |
|
Atopic dermatitis, Eczema, Decreased circulating IgA level, Pneumothorax, Pulmonary arterial hype... |
OMIM:619472 |
Al Amyloidosis |
|
Obstructive sleep apnea, Anemia, Increased circulating antibody level, Howell-Jolly bodies, Nonpr... |
ORPHA:85443 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... |
ORPHA:1830 |
Scleromyxedema |
|
Exertional dyspnea, Paraproteinemia |
ORPHA:167635 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level, Recurrent infections, ... |
OMIM:601675 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... |
OMIM:212750 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Leukemia |
OMIM:208910 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Sinusitis, Productive cough, Neutropenia, Lung abscess,... |
ORPHA:228119 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia, Laryngotracheomalacia |
OMIM:271510 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... |
ORPHA:227990 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... |
ORPHA:3132 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Microangiopathic hemolytic anemia, Myositis, Decreased serum complement C4, Discoid l... |
ORPHA:93552 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Tubulointerstitial nephritis, Posterior uveitis, Normochro... |
ORPHA:91500 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... |
ORPHA:99829 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Tubulointerstitial nephritis, Respiratory insufficiency, Leukopen... |
ORPHA:470 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Eczema, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:223370 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, ... |
ORPHA:99826 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level |
OMIM:212065 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... |
ORPHA:227982 |
Noonan Syndrome 12 |
|
Atopic dermatitis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Sepsis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating mye... |
ORPHA:36234 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Recurrent infections, Splenomegaly |
OMIM:613327 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea, Recurrent respiratory infections |
ORPHA:2004 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... |
ORPHA:906 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Recurrent lower respiratory tract infections |
ORPHA:86816 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytope... |
ORPHA:88 |
Aapoaiv Amyloidosis |
|
Chronic pulmonary obstruction, Paraproteinemia |
ORPHA:439232 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Recurrent fungal infections, Hepatitis, Onychomycosis, Increased... |
ORPHA:186 |
Hennekam Syndrome |
|
Respiratory insufficiency, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Recur... |
ORPHA:2136 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... |
ORPHA:508542 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Recurrent infections, S... |
ORPHA:84064 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Epistaxis, Anemia, Cough, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Gaucher Disease |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Anemia, Hepatitis, Splenomegaly, Oste... |
ORPHA:355 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... |
OMIM:607944 |
Immunodeficiency 49 |
|
Inflammatory abnormality of the skin, Eosinophilia, Lymphopenia |
OMIM:617237 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... |
ORPHA:760 |
Psoriasis 14, Pustular |
|
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia |
OMIM:614204 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Respiratory failure requiring assisted ventilation, Neutrophilia |
ORPHA:1930 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... |
ORPHA:83617 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Respiratory distress, Sk... |
OMIM:612852 |
Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis |
ORPHA:1560 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Crackles, Leukopenia, Rhinitis, Fulminant hepatitis, Respiratory distr... |
ORPHA:319213 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Pulmonary embolism, Eosinophilia, Inflamma... |
ORPHA:3260 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Myositis, Pulmonary arterial hypertension... |
ORPHA:258 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Obstructive sleep apnea, Decreased circulating total IgM, Centra... |
ORPHA:369837 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Apl... |
OMIM:127550 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Necrotizing enterocoli... |
OMIM:619573 |
Primary Sclerosing Cholangitis |
|
Hepatitis, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Uveitis, Thyroiditis, Pleural effusion... |
ORPHA:171 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Familial Mediterranean Fever |
|
Leukocytosis, Pericarditis, Peritonitis, Arthritis, Splenomegaly, Erysipelas, Crohn's disease, Ne... |
OMIM:249100 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress, Recurrent infections |
OMIM:618922 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Spermatogenic Failure 15 |
|
Aspiration |
OMIM:616950 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Esophagitis,... |
ORPHA:1199 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Opitz Gbbb Syndrome, Type I |
|
Aspiration |
OMIM:300000 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Oculopharyngodistal Myopathy 1 |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, Aspiration, ... |
OMIM:164310 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration, Esophagitis, Obstructive sleep apnea |
ORPHA:96182 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Respiratory distress, Recurrent upper respiratory tract infec... |
ORPHA:404448 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections, Respiratory fail... |
ORPHA:500150 |
Opitz Gbbb Syndrome, Type Ii |
|
Aspiration, Pulmonary arterial hypertension |
OMIM:145410 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Apnea |
ORPHA:98889 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Atopic dermatitis, Neonatal respiratory distress, Chronic otitis media, Recurrent otitis media, A... |
OMIM:619503 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Aspiration, Otitis media,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Aspiration, Otitis media,... |
ORPHA:353277 |
Cushing Disease |
|
Leukocytosis, Acne, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count |
ORPHA:96253 |