Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... |
OMIM:615206 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... |
ORPHA:169079 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... |
OMIM:613953 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... |
OMIM:618944 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... |
OMIM:620632 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased... |
OMIM:312863 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... |
ORPHA:331206 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... |
ORPHA:98813 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
OMIM:608184 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... |
ORPHA:277 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... |
OMIM:615214 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... |
OMIM:616452 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... |
ORPHA:319552 |
Immunodeficiency 48 |
|
Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ... |
OMIM:269840 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections |
OMIM:619693 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... |
OMIM:308230 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... |
ORPHA:83471 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... |
OMIM:243700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
ORPHA:911 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... |
OMIM:618982 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... |
OMIM:618048 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... |
OMIM:600802 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre... |
OMIM:300400 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... |
OMIM:616098 |
Immunodeficiency 12 |
|
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... |
OMIM:615468 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... |
ORPHA:79124 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... |
OMIM:606367 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... |
OMIM:618204 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... |
OMIM:300291 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa... |
OMIM:307200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Selective Igm Deficiency |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... |
ORPHA:331235 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
Immunodeficiency 66 |
|
Meningitis, Sepsis, Defective T cell proliferation |
OMIM:618847 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell a... |
OMIM:619281 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... |
ORPHA:443811 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr... |
OMIM:613179 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Recurrent infections, Increased circulating interleukin 10 concentration |
OMIM:613759 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... |
OMIM:102700 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... |
ORPHA:183675 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... |
OMIM:615816 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmu... |
OMIM:620565 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, D... |
ORPHA:221139 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... |
ORPHA:486 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... |
ORPHA:158057 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Wiskott-Aldrich Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Increased circulating IgE level, Recur... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... |
OMIM:603585 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... |
OMIM:617475 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto... |
OMIM:615010 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... |
ORPHA:540 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 co... |
OMIM:620514 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... |
OMIM:612840 |
Immunodeficiency 40 |
|
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c... |
OMIM:616433 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... |
ORPHA:169090 |
Immunodeficiency 58 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... |
OMIM:618131 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... |
OMIM:306400 |
Omenn Syndrome |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:66628 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... |
OMIM:248500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:179494 |
Hereditary Orotic Aciduria |
|
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... |
OMIM:614576 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... |
OMIM:214500 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:542323 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration |
ORPHA:85435 |
Heme Oxygenase 1 Deficiency |
|
Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6 con... |
OMIM:614034 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... |
OMIM:619573 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio... |
OMIM:617053 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Incr... |
ORPHA:811 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration |
ORPHA:85410 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... |
OMIM:301220 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... |
ORPHA:2968 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Invasive fungal infection, Leukocytosis, Splen... |
ORPHA:90051 |
Tafro Syndrome |
|
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... |
ORPHA:457077 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... |
ORPHA:391487 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections |
OMIM:244460 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Increased circulating interleukin 6 concentration |
OMIM:608068 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ... |
OMIM:620376 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Leukocytosis... |
ORPHA:544482 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration |
ORPHA:69665 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections |
OMIM:615895 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Recurrent... |
ORPHA:470 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... |
OMIM:147060 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... |
OMIM:256040 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... |
ORPHA:244 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Velocardiofacial Syndrome |
|
Recurrent infections, Impaired T cell function |
OMIM:192430 |
Yellow Fever |
|
Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inte... |
ORPHA:99829 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Splenomegaly, Neutropenia |
OMIM:232220 |
Progeroid Short Stature With Pigmented Nevi |
|
Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level |
OMIM:181000 |
Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Increased circulating interleukin 6 concentration, Thr... |
ORPHA:160 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections |
ORPHA:79259 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Digeorge Syndrome |
|
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Recurrent si... |
OMIM:188400 |
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 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia |
ORPHA:567 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess |
ORPHA:642 |