Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... |
ORPHA:98848 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
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, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... |
OMIM:615767 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma |
OMIM:147050 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... |
OMIM:606843 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... |
OMIM:607594 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... |
OMIM:615559 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... |
OMIM:617241 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Recurrent otitis media |
OMIM:613501 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly |
OMIM:269840 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Increased circulating IgE level, ... |
ORPHA:2902 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia |
OMIM:613502 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... |
ORPHA:169154 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... |
OMIM:618523 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... |
OMIM:601495 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... |
OMIM:601457 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... |
ORPHA:169160 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... |
OMIM:102700 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... |
OMIM:616098 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... |
OMIM:240500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... |
OMIM:613101 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis |
OMIM:193670 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Decreased circulating antibody level, Recurrent sk... |
OMIM:616576 |
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 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... |
ORPHA:331206 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Decreased circulating IgG level, Decreased circulating anti... |
OMIM:308240 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... |
OMIM:614470 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Pgm3-Cdg |
|
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... |
ORPHA:443811 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased circulating IgA level... |
OMIM:606367 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... |
OMIM:614700 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... |
OMIM:618534 |
Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Neutropenia, Infectious encephalitis, Pneumonia, Bronch... |
ORPHA:1163 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618261 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... |
OMIM:304790 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Chronic pulmonary obstruction, Neutropenia, Leukopenia, Partial absence of spe... |
OMIM:618986 |
Immunodeficiency 46 |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... |
OMIM:616740 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Decreased circulatin... |
OMIM:308230 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:256500 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Decre... |
ORPHA:275 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
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 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal... |
ORPHA:167 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... |
ORPHA:33355 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:572 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Asthma |
OMIM:270300 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Mastocytosis |
|
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Cough, Splenomegaly, Asthma, Mastocy... |
ORPHA:98292 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin |
ORPHA:542592 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in pre... |
ORPHA:37042 |
Leishmaniasis |
|
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... |
ORPHA:507 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... |
OMIM:613011 |
Lymphoproliferative Syndrome 2 |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
OMIM:615122 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... |
ORPHA:331235 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Cough, Osteomyelitis, Increased circulating IgE level, Skin rash, E... |
ORPHA:2314 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the large int... |
OMIM:301000 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... |
OMIM:613470 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Epistaxis, Intermittent ... |
OMIM:313900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... |
OMIM:618935 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... |
OMIM:615577 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
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 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Asth... |
ORPHA:634 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... |
OMIM:616005 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomega... |
ORPHA:158061 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... |
ORPHA:540 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... |
ORPHA:183675 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
ORPHA:90362 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Pyoderma Gangrenosum |
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Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG l... |
OMIM:208900 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis |
OMIM:615190 |
Igg4-Related Kidney Disease |
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Tubulointerstitial nephritis, Eosinophilia, Elevated circulating C-reactive protein concentration... |
ORPHA:449395 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
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Decreased circulating antibody level, Respiratory insufficiency, Intraalveolar phospholipid accum... |
OMIM:618042 |
Good Syndrome |
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Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent skin in... |
ORPHA:169105 |
Lead Poisoning |
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Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnorm... |
ORPHA:330015 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233710 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Psoriasiform dermatitis, Neonatal respiratory distress, Decreased circulating ... |
ORPHA:221139 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Bloom Syndrome |
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Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Malar... |
OMIM:210900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:306400 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... |
ORPHA:449432 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... |
OMIM:617591 |
Myotonic Dystrophy 2 |
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Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... |
OMIM:602668 |
Chediak-Higashi Syndrome |
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Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Common Variable Immunodeficiency |
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Pneumonia, Bronchiectasis, Chronic otitis media, Decreased circulating antibody level, Splenomega... |
ORPHA:1572 |
Immunodeficiency 82 With Systemic Inflammation |
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Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... |
OMIM:619381 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Bloom Syndrome |
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Acute lymphoblastic leukemia, Chronic pulmonary obstruction, Abnormal proportion of CD8-positive ... |
ORPHA:125 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Secondary Intestinal Lymphangiectasia |
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Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Riddle Syndrome |
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Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level, Thrombocytopenia, Perisylvian polymicrogyria |
OMIM:616638 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Impaired platelet aggregation, Conjunctivitis, Leukocytosis, Polycythemia, Bone marrow... |
ORPHA:2968 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hashimoto thyroiditis, Reduced forced expiratory volume in one second, Decreased circulating IgA ... |
OMIM:613385 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... |
OMIM:612301 |
Mogs-Cdg |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Decreased circulating IgA level, Elevated alpha-fetoprotein, Leukemia |
OMIM:208910 |
Immunodeficiency 47 |
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Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG, Leukopenia, ... |
OMIM:300972 |
Rasmussen Subacute Encephalitis |
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Decreased circulating total IgA |
ORPHA:1929 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... |
OMIM:212750 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Decreased circulating IgA level, Polymicrogyria, Asthma |
ORPHA:457485 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level, Hypoalbuminemia |
OMIM:212065 |
Trichinellosis |
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Increased circulating IgE level, Skin rash, Conjunctivitis |
ORPHA:863 |
Dubowitz Syndrome |
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Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:223370 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... |
ORPHA:83617 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating IgA level, Obstructive sleep apnea, Decreased circulating total IgM, Centra... |
ORPHA:369837 |
Simpson-Golabi-Behmel Syndrome |
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Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |
Viss Syndrome |
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Atopic dermatitis, Eczema, Decreased circulating IgA level, Pneumothorax, Pulmonary arterial hype... |
OMIM:619472 |
Monosomy 18Q |
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Decreased circulating IgA level |
ORPHA:1600 |