Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... |
OMIM:616911 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... |
OMIM:212050 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency 19 |
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Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... |
OMIM:615617 |
Immunodeficiency 62 |
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Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... |
OMIM:618459 |
Immunodeficiency 84 |
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Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
Immunodeficiency 52 |
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Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Immunodeficiency 48 |
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Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ... |
OMIM:269840 |
Immunodeficiency, Common Variable, 13 |
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Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... |
OMIM:618204 |
Cernunnos-Xlf Deficiency |
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Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm... |
ORPHA:169079 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased... |
OMIM:312863 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal... |
ORPHA:277 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... |
OMIM:618982 |
Immunodeficiency 109 With Lymphoproliferation |
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Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Immunodeficiency 76 |
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Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... |
OMIM:616452 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
Immunodeficiency 102 |
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Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... |
OMIM:301082 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Recurrent... |
OMIM:616910 |
Immunodeficiency 13 |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
Immunodeficiency 36 With Lymphoproliferation |
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Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Activated Pi3K-Delta Syndrome |
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Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly... |
ORPHA:397596 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu... |
OMIM:150550 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... |
ORPHA:217390 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt... |
OMIM:619281 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H... |
OMIM:301078 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... |
OMIM:601457 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
Omenn Syndrome |
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Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... |
ORPHA:331206 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
Immunodeficiency, Common Variable, 6 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Immunodeficiency 17 |
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Abnormal B cell morphology, Anoperineal fistula, Chronic decreased circulating IgG2, Decreased pr... |
OMIM:615607 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr... |
OMIM:614069 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Immunodeficiency 68 |
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Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ... |
OMIM:612260 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Agammaglobulinemia, X-Linked |
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Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... |
OMIM:300755 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
Immunodeficiency 92 |
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Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... |
OMIM:619652 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... |
OMIM:618048 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ... |
OMIM:102700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... |
OMIM:606367 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Abnormal T cell count, Recurrent enteroviral infections, Panhypogammaglobulinemia, Enteroviral de... |
OMIM:307200 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R... |
OMIM:614700 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Severe cytomegalovirus infection, Im... |
OMIM:619313 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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Abnormal natural killer cell morphology, B lymphocytopenia, Micropenis, Recurrent lower respirato... |
OMIM:615966 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... |
ORPHA:508542 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... |
ORPHA:221139 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Nijmegen Breakage Syndrome |
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Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... |
OMIM:251260 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Hepatitis, Recur... |
ORPHA:391487 |
Alg12-Cdg |
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Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of... |
ORPHA:79324 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Decreased circulating total IgG, Anoperineal fistula, Hepatiti... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hepatomegaly, Bi... |
ORPHA:83617 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
Gaisböck Syndrome |
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Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |