Gene Summary

Name:
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
Synonyms:
beta c,  AIC2B,  CDw131,  Il3r,  Il3rb1,  Il5rb,  Csf2rb1,  Bc,  common beta chain

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 7.31×10-10
preweaning lethality, complete penetrance Csf2rbtm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal eye anterior chamber depth Csf2rbtm2b(EUCOMM)Hmgu HET   Early adult 1.08×10-07
decreased anxiety-related response Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 4.03×10-05
abnormal behavior Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 1.84×10-05
decreased thigmotaxis Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 1.90×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Csf2rb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Csf2rb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Abnormal circulating protein concentration, Elevated circulating carcinoemb... ORPHA:264675

The table below shows human diseases predicted to be associated to Csf2rb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... OMIM:618042
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased circulating IgG level... OMIM:312863
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m... OMIM:617638
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ab... OMIM:615214
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P... OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... OMIM:601457
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R... OMIM:615513
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Immunodeficiency 88
Eosinophilia OMIM:619630
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen... OMIM:300455
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:619220
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent infections, Recurrent pneumonia, Decreased circulating IgG level, Hepatitis,... ORPHA:169160
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 32B
Pneumonia, Recurrent infections, Neutrophilia, BCGitis, Impaired oxidative burst, Abnormal circul... OMIM:226990
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Molluscum c... OMIM:618982
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... OMIM:618986
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... OMIM:614868
Immunodeficiency 46
Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Meningitis, Neutropeni... OMIM:616740
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ... OMIM:619126
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ... OMIM:620282
Esophagitis, Eosinophilic, 1
Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Dysphagia OMIM:613412
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc... OMIM:614069
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... ORPHA:83471
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... OMIM:243700
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... ORPHA:436159
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Rec... ORPHA:486
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Abnormal circulating protein concentration, Intraalveolar phospholipid accu... ORPHA:747
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration ORPHA:930
Polycystic Lung Disease
Recurrent infections, Multiple pulmonary cysts, Spontaneous neonatal pneumothorax OMIM:219600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese... ORPHA:231154
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect... ORPHA:60033
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Immunodeficiency 92
Pneumonia, Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific a... OMIM:619652
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab... OMIM:618282
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis s... OMIM:307200
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Thrombocytosis, Anemia, Abnormal pulmonary interstitial ... OMIM:615486
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... ORPHA:449280
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve... OMIM:614470
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Panhypogammaglobulin... OMIM:615207
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec... ORPHA:2688
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:306400
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat... OMIM:619752
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Kimura Disease
Eosinophilia ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... ORPHA:238459
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... ORPHA:51636
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol... OMIM:300755
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i... OMIM:300299
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... OMIM:618495
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulin... ORPHA:33110
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T c... OMIM:613179
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Panacina... OMIM:613490
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level... OMIM:102700
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the ... OMIM:603554
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ... OMIM:619223
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Melioidosis
Pneumonia, Unusual skin infection, Sepsis, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro... ORPHA:31202
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... OMIM:612387
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Leukocyto... ORPHA:3392
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Dec... OMIM:619374
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Elevated circulating... OMIM:616414
Wells Syndrome
Eosinophilia ORPHA:901
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ... OMIM:619632
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... ORPHA:443811
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati... ORPHA:723
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lymphocyte morpholo... ORPHA:47612
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... OMIM:615468
Interstitial Lung Disease 2
Usual interstitial pneumonia, Pulmonary fibrosis, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:178500
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus... ORPHA:2902
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa... OMIM:619774
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... ORPHA:470
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia... OMIM:615387
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis, Dysphagia ORPHA:2070
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Staphylococcal Necrotizing Pneumonia
Pneumonia, Sepsis, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Severe infection, Ac... ORPHA:36238
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli... ORPHA:228119
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:90045
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells ORPHA:477814
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Decreased circulating antibody level, Recurren... ORPHA:1572
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... OMIM:242860
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema ORPHA:70587
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosu... OMIM:615816
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Chronic otitis media, Recurrent cutaneous ... OMIM:618131
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary s... ORPHA:244
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Punctat... OMIM:617388
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom... ORPHA:2314
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... ORPHA:35078
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri... ORPHA:36234
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... ORPHA:2357
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Omenn Syndrome
Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Eryt... ORPHA:39041
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Good Syndrome
Recurrent urinary tract infections, Decreased circulating antibody level, Abnormal leukocyte morp... ORPHA:169105
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... OMIM:613807
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Atelis Syndrome 1
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Recurrent infections, Bron... OMIM:620184
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio... ORPHA:133
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis ORPHA:293173
Netherton Syndrome
Recurrent infections, Eczematoid dermatitis, Emphysema, Increased circulating IgE level, Skin ras... ORPHA:634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious enc... ORPHA:454836
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Bloom Syndrome
Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi... ORPHA:125
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Opacification of the co... OMIM:158310
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Aspiration pneumonia ORPHA:90117
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute... ORPHA:178320
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... ORPHA:811
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Hypocomplementemic Urticarial Vasculitis
Emphysema, Episcleritis, Pleural effusion, Skin rash, Recurrent bacterial infections, Splenomegal... ORPHA:36412
Q Fever
Pneumonia, Unusual infection, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural ef... ORPHA:781
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Pleural effusion... OMIM:620233
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Netherton Syndrome
Hypereosinophilia OMIM:256500
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Nocardiosis
Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost... ORPHA:31204
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Eosinophilia, Macrocytic anemia, Anorexia ORPHA:199299
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Dysphagia ORPHA:183
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:608710
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem... ORPHA:88
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Abnormal circulating protein concentration, Elevated circulating carcinoemb... ORPHA:264675
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se... ORPHA:293978
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Incontinentia Pigmenti
Cataract, Keratitis, Attention deficit hyperactivity disorder, Eosinophilia, Corneal opacity ORPHA:464
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... ORPHA:48435
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recurrent skin infections... OMIM:619381
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron... ORPHA:420741
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent respiratory infections, Atelectasis, Hepatosplenomegal... OMIM:618278
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Sepsis, Pancreatitis ORPHA:70578
Immunodeficiency 31C
Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Ly... OMIM:614162
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Hypophosphatasia
Emphysema, Anemia ORPHA:436
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... ORPHA:221139
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Pleural e... ORPHA:73263
Adult-Onset Still Disease
Hepatitis, Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, I... ORPHA:829
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Timothy Syndrome
Pneumonia, Recurrent infections, Bronchitis OMIM:601005
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Incontinentia Pigmenti
Cataract, Eosinophilia, Keratitis, Leukocytosis OMIM:308300
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Abnormal erythrocyte enzyme concentrati... ORPHA:100924
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Listeriosis
Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect... ORPHA:533
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, Anemia... OMIM:617053
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... OMIM:607944
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Pleural empyema, Unusual... ORPHA:228123
Lujo Hemorrhagic Fever
Severe viral infection, Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapu... ORPHA:319213
Alveolar Echinococcosis
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Igg4-Related Pachymeningitis
Eosinophilia, Dysphagia ORPHA:449427
Shigellosis
Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, ... ORPHA:810
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Thrombocytopenia-Absent Radius Syndrome
Cataract, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Corneal opacity, Anemia OMIM:274000
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,... ORPHA:1855
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Abn... OMIM:181000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre... ORPHA:499009
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Subpleural interstitial thic... ORPHA:79128
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Hemolytic anemia, Leukocytosis, Respiratory tra... ORPHA:544482
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Hepatosplenomegaly, Nodular pattern on... ORPHA:333
Cryptococcosis
Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti... ORPHA:1546
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Sepsis, Skin rash, Normochromic anemia ORPHA:247691
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... OMIM:615846
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... ORPHA:728
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Sarcoidosis
Cataract, Leukopenia, Increased T cell count, Eosinophilia, Keratoconjunctivitis sicca, Thrombocy... ORPHA:797
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Cystic Fibrosis
Recurrent Burkholderia cepacia infections, Recurrent Aspergillus infections, Nontuberculous mycob... ORPHA:586
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona... OMIM:619708
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Dysphagia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Igg4-Related Ophthalmic Disease
Eosinophilia, Keratitis ORPHA:449563
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia OMIM:230900
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Leukopenia, Skin rash, Increased circulating IgA level, Osteoarthritis, Thr... ORPHA:2298
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Chroni... ORPHA:906
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Recurrent urinary tract infections, Em... ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Hypoproteinemia, Elevated circulating creatine k... ORPHA:26793
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Respiratory tract i... ORPHA:68
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Otitis media, Re... ORPHA:309282
Cushing Disease
Depression, Lymphopenia, Leukocytosis, Emotional lability, Decreased eosinophil count ORPHA:96253
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Leukocytosis, Pulmonary edema, Anemia, Severe infection, Glomerulone... ORPHA:340
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Digeorge Syndrome
Recurrent pneumonia, Atelectasis, Impaired T cell function, Recurrent otitis media, Splenomegaly,... OMIM:188400
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Emphys... OMIM:245150
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Atelectasis, Pulmonary hypoplasia OMIM:269860
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Splenic cyst, Pancreatitis, Pulmonary artery atresia, Pulmonary hypoplasia OMIM:620371
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Sepsis, Recurrent urinary tract infections, Pyoderma, Pneumothorax, Gastrointestinal i... ORPHA:79404
Viss Syndrome
Hypereosinophilia, Dysphagia OMIM:619472
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Bickerstaff Brainstem Encephalitis
Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Cystic Fibrosis
Recurrent pneumonia, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmon... OMIM:219700
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia, Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ... OMIM:130050
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232