Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Specific Granule Deficiency 1 |
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Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 35 |
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Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Myelolymphatic Insufficiency |
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Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Immunodeficiency 34 |
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Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
Complement Component 7 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Immunodeficiency 61 |
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Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Immunodeficiency 108 With Autoinflammation |
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Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation |
OMIM:260570 |
Immunodeficiency 30 |
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Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Mannose-Binding Lectin Deficiency |
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Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
Complement Factor D Deficiency |
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Recurrent bacterial infections |
OMIM:613912 |
Complement Component 8 Deficiency, Type Ii |
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Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
Complement Component 6 Deficiency |
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Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 13 |
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Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 28 |
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Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 33 |
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Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency 31A |
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BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency 116 |
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Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
OMIM:608184 |
Immunodeficiency 31B |
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Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
Ficolin 3 Deficiency |
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Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency 51 |
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Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... |
OMIM:613953 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
Immune Deficiency, Familial Variable |
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Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 84 |
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Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... |
OMIM:607624 |
Cernunnos-Xlf Deficiency |
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Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm... |
ORPHA:169079 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
Immunodeficiency 20 |
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Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent otitis m... |
OMIM:615707 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
Mhc Class Ii Deficiency 1 |
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Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Congenital Disorder Of Glycosylation, Type Iic |
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Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia |
OMIM:266265 |
Agammaglobulinemia 7, Autosomal Recessive |
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Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... |
OMIM:615214 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... |
ORPHA:98813 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
Immunodeficiency, Common Variable, 6 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
Immunodeficiency 110 With Lymphoproliferation |
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Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Immunodeficiency 115 With Autoinflammation |
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Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... |
OMIM:620632 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
Immunodeficiency 36 With Lymphoproliferation |
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Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Immunodeficiency 10 |
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Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... |
ORPHA:331206 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... |
OMIM:308230 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... |
OMIM:300291 |
Complement Component 3 Deficiency, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections |
OMIM:619693 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... |
OMIM:243700 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in... |
ORPHA:83471 |
Complement Factor B Deficiency |
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Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 32B |
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BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev... |
OMIM:226990 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Incr... |
ORPHA:811 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Complement Factor H Deficiency |
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Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency 27B |
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Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... |
OMIM:618048 |
Selective Igm Deficiency |
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Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... |
ORPHA:331235 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa... |
OMIM:307200 |
Autosomal Dominant Severe Congenital Neutropenia |
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Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... |
ORPHA:486 |
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 |
Leukocyte Adhesion Deficiency |
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Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... |
ORPHA:2968 |
Immunodeficiency 12 |
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Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... |
OMIM:615468 |
Specific Granule Deficiency 2 |
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Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... |
OMIM:617475 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T cell functio... |
OMIM:613179 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... |
ORPHA:183675 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ... |
OMIM:102700 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... |
ORPHA:443811 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... |
OMIM:615816 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... |
OMIM:306400 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... |
ORPHA:169090 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... |
OMIM:612840 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... |
OMIM:620565 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... |
OMIM:603585 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
Omenn Syndrome |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ... |
OMIM:618935 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... |
ORPHA:221139 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... |
OMIM:214500 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... |
ORPHA:167 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio... |
OMIM:617053 |
Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... |
OMIM:248500 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections |
OMIM:244460 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Polysplenia, Recurrent otitis media,... |
ORPHA:244 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... |
OMIM:619573 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections |
OMIM:615895 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Splenomegaly, Neutropenia |
OMIM:232220 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... |
OMIM:147060 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Leukopenia, Increased circulating antibody level, Recurrent... |
ORPHA:470 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections |
ORPHA:79259 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess |
ORPHA:642 |