Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 8 Deficiency, Type Ii |
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Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Complement Component 6 Deficiency |
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Recurrent meningococcal disease |
OMIM:612446 |
Mannose-Binding Lectin Deficiency |
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Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Tuftsin Deficiency |
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Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Abnormal T cell count, Recurrent respiratory infections, Abnormal... |
OMIM:613495 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia |
OMIM:619437 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Abno... |
OMIM:613953 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... |
OMIM:613500 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... |
OMIM:616873 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... |
OMIM:613501 |
Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Anemia, Neutr... |
OMIM:202700 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... |
OMIM:620449 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
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 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
OMIM:608184 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Recurrent otitis media, Neutropenia, Abnormal T cell morphology, Recurrent b... |
OMIM:613502 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Specific Granule Deficiency 1 |
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Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Anemia, Thrombocytopenia, B lymphocytopenia, Recurrent b... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen... |
ORPHA:2688 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Recurrent bronchitis, B ... |
OMIM:612692 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Whim Syndrome 1 |
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Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Mhc Class Ii Deficiency 1 |
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Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... |
OMIM:614172 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... |
OMIM:240500 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... |
OMIM:607594 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Sepsis, ... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent ... |
ORPHA:572 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, T... |
OMIM:607676 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Abnormal B cell count, Recurrent bacterial infections, Recurrent respirato... |
OMIM:613496 |
Immunodeficiency 115 With Autoinflammation |
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Recurrent viral infections, Splenomegaly, Decreased proportion of memory T cells, Anemia, Candida... |
OMIM:620632 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... |
ORPHA:169090 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... |
OMIM:612840 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Reduced natural ... |
OMIM:243700 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,... |
OMIM:617475 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Aplastic anemia, Leukemia, Lymphopenia, Recurrent infection of the ga... |
ORPHA:486 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, ... |
OMIM:616005 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
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 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Autoimmu... |
OMIM:612783 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re... |
OMIM:307200 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Recurrent enteroviral infections, Lymphopenia,... |
ORPHA:331206 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the thymus, Eos... |
OMIM:603554 |
Selective Igm Deficiency |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Meningitis, Autoimmune thromb... |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Thrombocytopenia, B lymphocyt... |
OMIM:618048 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren... |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Splenomegaly, Meningitis, Neutr... |
OMIM:308230 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Abnormal CD4:CD8 ratio, Recurrent respir... |
ORPHA:443811 |
Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... |
OMIM:615816 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Severe B lymphocytopenia, Chronic mucocutaneous ... |
OMIM:102700 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis,... |
OMIM:620565 |
Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections |
OMIM:300291 |
Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Anemia, Thrombocytopenia, Re... |
OMIM:617053 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... |
OMIM:214500 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Chédiak-Higashi Syndrome |
|
Recurrent streptococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Recur... |
ORPHA:167 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary tract infections... |
ORPHA:221139 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Abnormal neutrophil mo... |
ORPHA:51636 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Recurrent viral infections, Aplastic anemia, Sepsis, Leukemia, Increased mean ... |
ORPHA:811 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... |
ORPHA:244 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased... |
OMIM:242840 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
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 |
|
Recurrent bacterial infections, Anemia, Leukocytosis, Splenomegaly |
OMIM:615895 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly |
OMIM:248500 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent bacter... |
OMIM:300972 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis, Polycythemia, Recurrent urin... |
ORPHA:2968 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Splenomegaly, Neutropenia |
OMIM:232220 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia |
ORPHA:79259 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Recurrent bacterial i... |
ORPHA:470 |
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 |
ORPHA:642 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
|
OMIM:619188 |