Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Immunodeficiency, Common Variable, 5 |
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Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Agammaglobulinemia 3, Autosomal Recessive |
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Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency 35 |
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Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... |
OMIM:308220 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... |
OMIM:202700 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iic |
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Bronchiolitis, Reduction of neutrophil motility, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233710 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency, Common Variable, 13 |
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Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233690 |
Acute Lung Injury |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Macrophage Activation Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Immunodeficiency 67 |
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Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Adult Idiopathic Neutropenia |
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Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Immune Deficiency Disease |
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Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... |
OMIM:618935 |
Necrobiosis Lipoidica |
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Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Granulomatous Disease, Chronic, X-Linked |
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Impaired oxidative burst, Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella... |
OMIM:306400 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... |
OMIM:214500 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Leukocytosis, Brain abscess, Hemolytic anemia,... |
ORPHA:544482 |
Agammaglobulinemia 1, Autosomal Recessive |
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Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... |
OMIM:601495 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... |
ORPHA:167 |
Indolent Systemic Mastocytosis |
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Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98848 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Leukocyte Adhesion Deficiency |
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Recurrent fungal infections, Chronic oral candidiasis, Abnormality of neutrophil physiology, Leuk... |
ORPHA:2968 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... |
OMIM:612132 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Neutropenia, Sepsis, Recurrent bacterial infections, Aplastic ... |
ORPHA:811 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Mastocytosis |
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Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis |
ORPHA:79318 |