Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:615214 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurr... |
OMIM:613501 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent otitis media, Recurrent pneumonia, Recurre... |
OMIM:613502 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Transient neutropenia, Recurrent streptococcal infections, L... |
OMIM:607676 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Extramedullary hematopoiesis... |
OMIM:615285 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Anemia, Interm... |
OMIM:616740 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... |
OMIM:300310 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Neutropenia, Recurrent otitis media, Recurrent... |
OMIM:601495 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:612692 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Anemia, Lymphopeni... |
ORPHA:169079 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... |
OMIM:614470 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Recurrent bacterial infections |
OMIM:616873 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... |
OMIM:150550 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral he... |
OMIM:619220 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Recurrent infections |
OMIM:616271 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Recurrent ... |
OMIM:613493 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent bacterial infections, Recurrent infection of the gastrointestin... |
ORPHA:572 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Infectious encephalitis, Neutropenia, Recurrent protozoan infecti... |
OMIM:209920 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Sepsis, Severe varicella zoster infection, Neutropenia, Leukopenia, Recurrent ... |
OMIM:618986 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent viral infections, Recurrent infections, Recurrent lower respiratory tract ... |
ORPHA:169154 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Immunodeficiency 55 |
|
Neutropenia, Recurrent infections |
OMIM:617827 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Splenomegaly, Recurrent pharyngitis, Meningitis, Severe Eps... |
OMIM:308240 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Recurrent infections, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... |
ORPHA:276 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis |
OMIM:604173 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:242850 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... |
ORPHA:275 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Hypoplasia of the... |
OMIM:603554 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection |
OMIM:300636 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... |
OMIM:618849 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia, Recurrent infections |
OMIM:617056 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233710 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Hemophagocytic Syndrome Associated With An Infection |
|
Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly, Severe cytomegalo... |
ORPHA:158048 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia, Recurrent ... |
OMIM:616005 |
Lichtenstein Syndrome |
|
Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Barth Syndrome |
|
Granulocytopenia, Recurrent infections in infancy and early childhood, Neutropenia |
OMIM:302060 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Splenomegaly, Menin... |
OMIM:240500 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:306400 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections |
OMIM:258360 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia, Recurrent pneumonia, ... |
OMIM:619281 |
Felty Syndrome |
|
Sepsis, Neutropenia, Abnormal lymphocyte morphology, Anemia, Recurrent infections, Splenomegaly, ... |
ORPHA:47612 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Recurrent fungal infections, Recurrent vir... |
ORPHA:331206 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia |
OMIM:612783 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Sepsis, Anemia, Splenomegaly, Hepatosplenomegaly, E... |
OMIM:612840 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Sepsis, Neutropenia |
ORPHA:289916 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia |
OMIM:251190 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... |
OMIM:116920 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... |
OMIM:613179 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Severe infection, Meningitis, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Sepsis, Recurrent bacterial infections, Neutropenia, Abnormal proportion ... |
ORPHA:443811 |
Pelger-Huet Anomaly |
|
Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platelets, Thro... |
OMIM:169400 |
Cyclic Neutropenia |
|
Sepsis, Opportunistic infection, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent ton... |
ORPHA:2686 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Autoimmune thrombocytopenia, Recurrent respiratory infections |
OMIM:613496 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Abscess, Chronic mucocutaneous candidiasis, Recur... |
OMIM:615816 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Autosomal Agammaglobulinemia |
|
Sepsis, Neutropenia, Recurrent infections, Meningitis, Recurrent respiratory infections |
ORPHA:33110 |
X-Linked Agammaglobulinemia |
|
Sepsis, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Meningitis, Recurrent pneumon... |
ORPHA:47 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Recurrent lower respiratory tract infections... |
OMIM:308230 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Congenital Enterovirus Infection |
|
Leukocytosis, Sepsis, Neutropenia, Infectious encephalitis, Leukopenia, Anemia, Abnormal macropha... |
ORPHA:292 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Recurrent bacterial infections, Severe varicella zoster infe... |
OMIM:606367 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Chronic oral candi... |
OMIM:608233 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis |
OMIM:266265 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Recurrent herpes, Recurrent otiti... |
ORPHA:183675 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Recurrent viral i... |
OMIM:102700 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Recurrent infections, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Neutropenia, Recurrent infections |
OMIM:608809 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia |
OMIM:600351 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... |
ORPHA:167 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Meningitis, Recurrent upper respiratory trac... |
ORPHA:51636 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... |
ORPHA:811 |
Aspergillosis |
|
Infectious encephalitis, Neutropenia, Invasive pulmonary aspergillosis, Meningitis, Unusual CNS i... |
ORPHA:1163 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Splenomegaly, Rec... |
OMIM:617303 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Recurrent otitis media, Recurr... |
OMIM:612562 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Recurrent lower respiratory tract infections,... |
ORPHA:508542 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Immunodeficiency 91 And Hyperinflammation |
|
BCGosis, Monocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Neonatal sepsis |
ORPHA:391673 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... |
OMIM:260400 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Disseminated viral infection, Meningitis, Neonat... |
ORPHA:90051 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Recurrent infections, Lymphopenia... |
ORPHA:1830 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Infectious encephalitis, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:540 |
Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent lower respiratory tract infection... |
OMIM:615952 |
Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Neutropenia, Splenomegaly |
OMIM:617050 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Recurrent respiratory in... |
ORPHA:3226 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia, Recurrent infections |
ORPHA:79284 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections |
OMIM:617941 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia... |
ORPHA:37042 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Onychomycosis, Lymphopenia, ... |
ORPHA:228119 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Recurrent otitis media, Autoimmune thrombocytopenia, Lymphopenia, Recurrent respirat... |
OMIM:607944 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia, Recurrent infections |
ORPHA:1667 |
Sickle Cell Anemia |
|
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... |
OMIM:603903 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277380 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia, Recurrent infections |
OMIM:615471 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent ear infections, Recurrent fungal inf... |
ORPHA:221139 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platele... |
ORPHA:906 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection |
OMIM:300291 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... |
OMIM:242840 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Neutropenia, Recurrent infections |
OMIM:601347 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Toxic Epidermal Necrolysis |
|
Sepsis, Neutropenia, Anemia, Thrombocytopenia, Recurrent respiratory infections |
ORPHA:537 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
Trichothiodystrophy |
|
Neutropenia, Recurrent bronchopulmonary infections, Anemia, Recurrent infections, Increased mean ... |
ORPHA:33364 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... |
ORPHA:391487 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Leigh Syndrome |
|
Anemia, Severe viral infection, Neutropenia |
ORPHA:506 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Neutropenia, Recurrent ear infections, Recurrent cutaneous absc... |
ORPHA:163956 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Adult-Onset Still Disease |
|
Leukocytosis, Splenomegaly, Neutrophilia, Meningitis, Recurrent pharyngitis |
ORPHA:829 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Sepsis, Leukopenia, Neutrophilia, Severe infection |
ORPHA:36238 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly |
OMIM:248500 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227646 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Normocytic anemia, Leukopenia, Recurrent infections, Splenomegaly... |
OMIM:300972 |
Pneumocystosis |
|
Abnormal neutrophil count, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia |
ORPHA:723 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Primary Ciliary Dyskinesia |
|
Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... |
ORPHA:244 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, Hypersplenism, Hepato... |
ORPHA:228426 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Severe cytomegalovi... |
ORPHA:48435 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia |
ORPHA:91547 |
Pearson Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thrombocytopenia, Severe infect... |
ORPHA:699 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:2909 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:221008 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Hyper-Igd Syndrome |
|
Leukocytosis, Chronic oral candidiasis, Recurrent infections, Splenomegaly, Neutrophilia, Hepatos... |
OMIM:260920 |
Zygomycosis |
|
Brain abscess, Infectious encephalitis, Splenic abscess, Neutropenia, Unusual skin infection, Inv... |
ORPHA:73263 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Meningitis, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:221016 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia |
ORPHA:79259 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Recurrent infections, Neutroph... |
ORPHA:3243 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Chronic lymphocytic meningitis, Recurrent otitis media, Anemia, Recurrent infection... |
ORPHA:99843 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia |
OMIM:208400 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemopha... |
ORPHA:470 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly |
OMIM:612852 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia |
ORPHA:93357 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Sepsis, Neutropenia |
ORPHA:95455 |
Familial Mediterranean Fever |
|
Leukocytosis, Neutrophilia, Meningitis, Splenomegaly |
OMIM:249100 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Tooth abscess, Anemia, Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Yellow Fever |
|
Leukocytosis, Opportunistic infection, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |