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 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 8 Deficiency, Type Ii |
|
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 |
|
Recurrent meningococcal disease |
OMIM:612446 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
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 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
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 |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... |
OMIM:613501 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
Immunodeficiency 32B |
|
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... |
OMIM:226990 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:613493 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:613502 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency 112 |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... |
OMIM:620449 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... |
OMIM:619374 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections |
OMIM:612692 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... |
ORPHA:540 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... |
ORPHA:98848 |
Sweet Syndrome |
|
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... |
ORPHA:3243 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome... |
OMIM:618935 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... |
OMIM:613470 |
Acute Lung Injury |
|
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... |
ORPHA:544482 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:607594 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... |
ORPHA:276 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Immunodeficiency 108 With Autoinflammation |
|
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
Immunodeficiency 115 With Autoinflammation |
|
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis |
OMIM:620632 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... |
OMIM:214500 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
Immunodeficiency 67 |
|
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... |
OMIM:612783 |
Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... |
ORPHA:331235 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Pancytopenia, Hypersplenism, Leukoc... |
ORPHA:98850 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... |
OMIM:306400 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:167 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... |
OMIM:616005 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... |
OMIM:606367 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... |
ORPHA:331206 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial... |
OMIM:308230 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections |
OMIM:300291 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Sever... |
OMIM:615816 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Interstitial Cystitis |
|
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation |
ORPHA:37202 |
Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Recurr... |
ORPHA:443811 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Recu... |
ORPHA:221139 |
Shwachman-Diamond Syndrome |
|
Pneumonia, Bone marrow hypocellularity, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis... |
ORPHA:811 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:620565 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... |
OMIM:608233 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
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, Recurrent fun... |
OMIM:102700 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... |
OMIM:612541 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections |
ORPHA:244 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... |
ORPHA:51636 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fungal infections, Recur... |
OMIM:242840 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... |
ORPHA:3132 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... |
OMIM:619573 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Pmm2-Cdg |
|
Aspiration pneumonia, Impaired neutrophil chemotaxis, Pericarditis |
ORPHA:79318 |