Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... |
OMIM:202700 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... |
OMIM:608184 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu... |
OMIM:608957 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... |
OMIM:613953 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... |
OMIM:615707 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:209920 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8... |
OMIM:614493 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Eos... |
OMIM:243700 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... |
ORPHA:572 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... |
OMIM:601495 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... |
OMIM:616005 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra... |
ORPHA:331206 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Thymic Aplasia |
|
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... |
ORPHA:83471 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233710 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Sepsis, Recurrent bacterial infections, Aplastic ... |
ORPHA:811 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233690 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... |
OMIM:147060 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent bacter... |
OMIM:613179 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk... |
ORPHA:2968 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... |
ORPHA:911 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Recurrent bacterial infections, ... |
OMIM:618048 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Recurrent... |
OMIM:606367 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... |
OMIM:307200 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent bacterial infections, E... |
ORPHA:486 |
Omenn Syndrome |
|
Recurrent fungal infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thym... |
OMIM:603554 |
Specific Granule Deficiency 2 |
|
Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurrent pneumonia, Recur... |
OMIM:617475 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... |
ORPHA:183675 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Splenomegaly, Absent s... |
OMIM:102700 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... |
ORPHA:443811 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Splenomegaly, Granuloma, Recurrent Klebsiella infections, Re... |
OMIM:306400 |
Immunodeficiency 23 |
|
Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe varicell... |
OMIM:615816 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... |
OMIM:612840 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... |
OMIM:603585 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Splenomegaly, Recurrent ... |
OMIM:608233 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... |
OMIM:618935 |
Vici Syndrome |
|
Recurrent fungal infections, Decreased circulating IgG level, Gray matter heterotopia, Recurrent ... |
OMIM:242840 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... |
OMIM:610984 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... |
OMIM:214500 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre... |
ORPHA:221139 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... |
ORPHA:167 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Whim Syndrome |
|
Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Sepsis, Recurrent urinary tract infections, Recurrent bacterial infect... |
OMIM:612541 |
Immunodeficiency 47 |
|
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:300972 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Mirage Syndrome |
|
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Leukopen... |
OMIM:617053 |
Sickle Cell Anemia |
|
Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolytic anemia, Target cells, Incre... |
OMIM:603903 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level, Vacuolated lymphocytes, Spl... |
OMIM:248500 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Postinfectious Vasculitis |
|
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... |
ORPHA:48435 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections |
OMIM:244460 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... |
ORPHA:244 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Lymphopenia, Sepsis, Recurrent bacterial infections, Thrombocytopeni... |
OMIM:619573 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Recurrent bacterial infections, Leukocytosis, Splenomegaly |
OMIM:615895 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Neutropenia, Splenomegaly |
OMIM:232220 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Hemophagocytosis, Recurrent bacterial infections, Hepatospl... |
ORPHA:470 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Anemia, Recurrent bacterial infections, Chronic neutropenia, Abnormal myeloid leukocyte morphology |
ORPHA:79259 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Tooth abscess, Anemia, Abscess, Recurrent Staphylococcus aureus infections |
ORPHA:642 |