Gene: Sftpd MGI:109515

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

surfactant associated protein D

Synonyms:

Sftp4, SP-D, Sfpd

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Sftpd 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.

Human diseases associated with Sftpd (0 diseases)
Human diseases predicted to be associated with Sftpd (854 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u...	OMIM:617585
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Cachexia, Ac...	ORPHA:60033
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Recurrent infections, Failure to thrive, BCGitis, Impaired oxidative ...	OMIM:226990
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Immunodeficiency 51	Pneumonia, Folliculitis, Cutaneous abscess, Chronic mucocutaneous candidiasis, Eczematoid dermati...	OMIM:613953
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Felty Syndrome	Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lympho...	ORPHA:47612
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr...	OMIM:618394
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor...	ORPHA:133
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Abnormal pu...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis, Decreased circulating prealbumin concent...	ORPHA:930
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia, Pulmonary fibrosis	OMIM:620400
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm...	OMIM:178500
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Abnormal pulmonary interstitial morpholo...	OMIM:612387
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent...	OMIM:616022
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogamma...	OMIM:269840
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Reduced natur...	OMIM:300400
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis	ORPHA:60026
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections...	OMIM:608971
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Abnormal pulmonary interstitial morphology, ...	OMIM:619644
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia...	OMIM:312863
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c...	OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent infections, Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemopha...	OMIM:300635
Common Variable Immunodeficiency	Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Failure to thrive in infancy, Decreased ...	ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Hypophosphatasia	Anemia, Failure to thrive in infancy, Emphysema	ORPHA:436
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu...	OMIM:613501
Reticular Dysgenesis	Sepsis, Failure to thrive, Recurrent respiratory infections, Leukopenia, Skin rash, Weight loss, ...	ORPHA:33355
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent infections, Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin...	OMIM:615934
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf...	ORPHA:449280
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure...	OMIM:617514
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis	OMIM:620365
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A...	OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Increased circulating ferritin concentration, Abnormal pleura morpho...	ORPHA:210136
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia, Pulmonary...	OMIM:614743
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phospholipid accumulation...	OMIM:610913
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Pulmonary fibrosis, Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration	ORPHA:254361
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ...	OMIM:620321
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
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent infections, Hepatitis,...	ORPHA:169160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Netherton Syndrome	Recurrent infections, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Skin ras...	ORPHA:634
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m...	OMIM:617638
Diffuse Alveolar Hemorrhage	Leukocytosis, Weight loss, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemi...	ORPHA:90060
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophi...	OMIM:612852
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
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
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst, BCGitis	OMIM:619549
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immunodeficiency 46	Sepsis, Failure to thrive, Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Chron...	OMIM:616740
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Pulmonary fibrosis, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Failure to thrive, Recurrent respiratory infections, Abnormal lymphocyte morph...	ORPHA:229717
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Hepatospleno...	ORPHA:99931
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pulmonary fibrosis, Anemia, Pure red cell aplasia, Decreased circulating an...	OMIM:618165
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida...	ORPHA:217390
Pneumocystosis	Pneumocystis jirovecii pneumonia, Pleural effusion, Interstitial pneumonitis, Increased circulati...	ORPHA:723
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Granuloma, Lymphadeniti...	OMIM:306400
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Emphysema, Pleural effusion, Splenomegaly, Episcleritis, Skin rash, Inflammatory ...	ORPHA:36412
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Elevated circulating...	OMIM:616414
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Reduce...	OMIM:619281
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc...	OMIM:614069
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron...	ORPHA:420741
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Chronic otitis media, Failure to thrive, Hepatitis, Conjunctivitis, ...	ORPHA:47
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD...	OMIM:606367
Immunodeficiency 69	Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Failure to thrive, Hepat...	OMIM:618963
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Severe viral infection, Failure to thrive, Eczematoid dermatitis, Subpleura...	ORPHA:79128
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol...	OMIM:300755
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease...	OMIM:615952
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent infections, Decreased circulating IgG level, Failure to thrive, Atelectasis, Pulmonary ...	OMIM:618278
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thromb...	OMIM:613989
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly,...	OMIM:615122
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
Papular Xanthoma	Histiocytosis	ORPHA:158008
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Nocardiosis	Lymphadenitis, Scleritis, Weight loss, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous...	ORPHA:31204
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concent...	ORPHA:54251
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pancytopenia, Abnormality of T cell physiology, S...	OMIM:181000
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Increased circulating interleukin 6 concentration...	ORPHA:178320
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjunctivitis, Impa...	OMIM:240500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Antisynthetase Syndrome	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjunctivitis sic...	ORPHA:81
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph...	ORPHA:486
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hypertriglyceridemia, Abnormal pulmonary ...	OMIM:619013
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Splenomegaly, Skin rash, Myositis, Gastritis, Keratoconjunctivitis ...	ORPHA:809
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Pulmonary fibrosis, Overweight	ORPHA:457240
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm...	ORPHA:83471
Polymyositis	Elevated circulating creatine kinase concentration, Weight loss, Arthritis, Abnormal pulmonary in...	ORPHA:732
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros...	OMIM:610978
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocyt...	OMIM:614470
Braddock Syndrome	Pulmonary fibrosis, Failure to thrive	ORPHA:52047
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Autosomal Agammaglobulinemia	Recurrent infections, Sepsis, Chronic otitis media, Failure to thrive, Hepatitis, Osteomyelitis, ...	ORPHA:33110
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit...	ORPHA:51636
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Failure to thrive, Thrombocytosis, Anemia, Abnormal pulm...	OMIM:615486
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch...	OMIM:614868
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
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells, Decreased bod...	ORPHA:477814
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Usual interstitial pneumonia, Increased mean corpuscular volume, Splenomegaly, Cholecystitis, Thr...	OMIM:620367
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re...	ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ...	OMIM:619126
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis, Absent platelet dense granules	OMIM:614073
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Failure to t...	OMIM:263000
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Microlissencephaly	Pneumonia	ORPHA:1083
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo...	OMIM:601495
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto...	ORPHA:167
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Severe infection, Ac...	ORPHA:36238
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Leukocytosis, Pleural effusion, Otit...	ORPHA:3392
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, In...	ORPHA:900
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Chronic mucocuta...	OMIM:618282
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi...	OMIM:620233
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t...	OMIM:613179
Pleural Mesothelioma	Abnormal lung morphology, Abnormal pleura morphology, Weight loss, Pleural effusion	ORPHA:50251
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,...	OMIM:242860
Cryptogenic Organizing Pneumonia	Leukocytosis, Pneumothorax, Weight loss, Neutrophilia, Elevated circulating C-reactive protein co...	ORPHA:1302
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli...	ORPHA:228119
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocyto...	ORPHA:3226
Omenn Syndrome	Pneumonia, Recurrent viral infections, Failure to thrive, Splenomegaly, Recurrent bacterial infec...	OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level...	OMIM:102700
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s...	OMIM:615468
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Q Fever	Pneumonia, Unusual infection, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural ef...	ORPHA:781
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Immunodeficiency 56	Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Failure to thrive, P...	OMIM:615207
Niemann-Pick Disease, Type C2	Pulmonary fibrosis, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Follicular Lymphoma	Meningitis, Weight loss, Pleural effusion, Splenomegaly	ORPHA:545
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Abnormal ...	ORPHA:29207
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Pleural effusion, Skin rash, Weight loss, Anemia, Abnormal pulmonary ...	ORPHA:35687
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Increased circulating ferritin concentration, Leukocytosi...	ORPHA:829
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Hypercholesterolemia, Abnormality of the pulmonary artery, Hypertriglyceridemia	ORPHA:363618
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Atelectasis, Recurrent otitis media, Pulmonary s...	ORPHA:244
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ...	ORPHA:443811
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phospholipid accumul...	OMIM:620565
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Recurrent pharyngitis	ORPHA:42642
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp...	ORPHA:538
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Typhoid	Skin rash, Abnormal pulmonary interstitial morphology, Splenomegaly, Infectious encephalitis	ORPHA:99745
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Pulmonary fibrosis	OMIM:224230
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Congenital Enterovirus Infection	Hypoalbuminemia, Sepsis, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Ple...	ORPHA:292
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona...	OMIM:619708
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa...	ORPHA:95430
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Omenn Syndrome	Pneumonia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly,...	ORPHA:39041
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Eczematoid dermatitis, Pulmonary fibrosi...	ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Recurrent urinary tract infections, Emphysema, Slender build,...	OMIM:613658
Polyarteritis Nodosa	Weight loss, Elevated circulating C-reactive protein concentration, Abnormal lung morphology, Ple...	ORPHA:767
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Overlap Myositis	Rheumatoid arthritis, Leukopenia, Elevated circulating creatine kinase concentration, Severe infe...	ORPHA:206572
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom...	ORPHA:2314
Kaposi Sarcoma	Abnormality of the spleen, Skin rash, Weight loss, Abnormal lung morphology, Recurrent herpes	ORPHA:33276
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections, Small for gestational age, Failure to thrive	OMIM:616835
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningiti...	ORPHA:90362
Immunodeficiency 23	Allergic rhinitis, Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Failur...	OMIM:615816
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Chronic otitis media, Recurrent cutaneous ...	OMIM:618131
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen...	ORPHA:264675
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int...	OMIM:619858
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse...	OMIM:613177
Hermansky-Pudlak Syndrome	Pulmonary fibrosis, Weight loss, Neutropenia	ORPHA:79430
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Unusual infection, Invasive parasitic infection, Splenic cyst...	ORPHA:400
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Splenomegaly, Neutr...	OMIM:617050
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri...	ORPHA:36234
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai...	OMIM:265120
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Juvenile Dermatomyositis	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Weight loss, Arthritis, ...	ORPHA:93672
Sarcoidosis	Abnormal pleura morphology, Weight loss, Erythema nodosum, Tubulointerstitial nephritis, Pleural ...	ORPHA:797
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Recurrent respiratory...	OMIM:257200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis, Absent o...	OMIM:244400
Autosomal Recessive Cutis Laxa Type 1	Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia	ORPHA:90349
Ellis Van Creveld Syndrome	Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs, Failure to thrive	ORPHA:289
Immune-Mediated Necrotizing Myopathy	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Myocarditis, Abnormal pu...	ORPHA:206569
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Elevated circulating creatine kinase concentration	OMIM:620326
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Sepsis, Hepatitis, Conjunctivitis, Lymphopenia, Leukopenia,...	ORPHA:454836
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Failure to thrive, Abnormal pulmonary interstitial morphology, Recurrent res...	ORPHA:209905
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating...	ORPHA:85443
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia	ORPHA:100024
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Pleural effusion, Constrictive pericarditis, Weight loss, Lung abs...	ORPHA:67
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss...	OMIM:608710
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema	ORPHA:157991
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Increased circulating cortiso...	ORPHA:97287
Bloom Syndrome	Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi...	ORPHA:125
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Failure to thrive, Fasciitis, ...	ORPHA:39812
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Sepsis, Foot osteomyelitis, ...	ORPHA:31202
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circ...	ORPHA:540
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Ne...	ORPHA:99867
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Impaired arachi...	OMIM:614075
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio...	ORPHA:77259
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Systemic Capillary Leak Syndrome	Leukocytosis, Pleural effusion, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pericard...	ORPHA:188
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Elevated circulating creatine kinase concentration	ORPHA:90117
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec...	OMIM:615504
Diffuse Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Arthritis	ORPHA:220393
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion	ORPHA:330001
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Weight lo...	ORPHA:520
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Lymphopenia, Cyclic neutro...	ORPHA:2686
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary interstit...	OMIM:230800
Immunodeficiency 31C	Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Lymphopenia, Oste...	OMIM:614162
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ...	ORPHA:811
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Anemia, Weight...	ORPHA:2070
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis	OMIM:203300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Kikuchi-Fujimoto Disease	Leukopenia, Malar rash, Pleural effusion, Splenomegaly, Skin rash, Pustule, Myocarditis, Anemia, ...	ORPHA:50918
Bone Dysplasia, Lethal Holmgren Type	Anemia, Recurrent respiratory infections, Weight loss, Failure to thrive	ORPHA:1842
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Dermatomyositis	Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Lung adenocarcinoma, Elevated circula...	ORPHA:221
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia	OMIM:612199
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Weight loss, Keratoconjunctivitis sicca...	OMIM:617321
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Glucocorto...	ORPHA:171876
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Mast Cell Sarcoma	Mastocytosis, Weight loss, Splenomegaly	ORPHA:66661
Systemic Sclerosis	Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase concentration, Glo...	ORPHA:90291
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex...	ORPHA:98848
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Abnormal circulating protein concentration, Intraalveolar phospholipid accu...	ORPHA:747
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulatin...	ORPHA:289390
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ...	OMIM:619223
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss, Neoplasm of the lung	ORPHA:83469
Neonatal Marfan Syndrome	Emphysema	ORPHA:284979
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ...	ORPHA:70578
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating...	ORPHA:48435
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Recurrent infections, Bron...	OMIM:620184
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Myotubular Myopathy With Abnormal Genital Development	Atelectasis	OMIM:300219
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Weight loss, Elevated cir...	OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Keutel Syndrome	Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis	OMIM:245150
Gaucher Disease	Splenic infarction, Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Pancy...	ORPHA:355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se...	ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Meier-Gorlin Syndrome 1	Emphysema, Small for gestational age, Failure to thrive	OMIM:224690
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Fabry Disease	Anemia, Hyperlipidemia, Emphysema, Arthritis	ORPHA:324
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai...	OMIM:613470
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly...	ORPHA:2072
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Good Syndrome	Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morphology, Thr...	ORPHA:169105
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Monoclonal ...	ORPHA:91139
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Abnor...	ORPHA:77261
Laryngeal Neuroendocrine Tumor	Weight loss, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis, Eosinophilia, W...	ORPHA:183
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Galactose Epimerase Deficiency	Weight loss, Splenomegaly	ORPHA:79238
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati...	OMIM:222700
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:305000
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal...	ORPHA:77297
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly	OMIM:620296
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Conjunctivitis, Leukocytosis, Skin rash, Cholecystitis, Recurrent pha...	ORPHA:2331
Nephroblastoma	Weight loss, Neoplasm of the lung	ORPHA:654
Lujo Hemorrhagic Fever	Severe viral infection, Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapu...	ORPHA:319213
Autosomal Dominant Cutis Laxa	Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis	ORPHA:90348
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender build, Cachexia, Arthra...	ORPHA:558
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res...	OMIM:613808
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Peritonitis,...	OMIM:249100
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Farber Disease	Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Hepatosplenomegaly,...	ORPHA:333
Stevens-Johnson Syndrome	Sepsis, Abnormality of neutrophils, Abnormal pleura morphology, Weight loss, Pancreatitis, Thromb...	ORPHA:36426
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Marfan Syndrome	Emphysema, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Immunodeficiency 65, Susceptibility To Viral Infections	Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Splenomegaly	ORPHA:86893
Mirage Syndrome	Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurr...	OMIM:617053
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Pleural e...	ORPHA:73263
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Toxic Epidermal Necrolysis	Sepsis, Abnormal pleura morphology, Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Ane...	ORPHA:537
Alveolar Echinococcosis	Pulmonary cyst, Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal s...	ORPHA:284
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot...	OMIM:612650
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased F...	OMIM:304790
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis	ORPHA:86884
Anaplastic Thyroid Carcinoma	Weight loss, Neoplasm of the lung	ORPHA:142
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation	OMIM:614437
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Failure to thrive in infancy, Secretory IgA deficienc...	ORPHA:500150
Shigellosis	Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in in...	ORPHA:810
Listeriosis	Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect...	ORPHA:533
Timothy Syndrome	Pneumonia, Recurrent infections, Bronchitis	OMIM:601005
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Multiple Myeloma	Pleural effusion, Splenomegaly, Increased circulating IgA level, Weight loss, Anemia, Increased c...	ORPHA:29073
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Solitary Fibrous Tumor	Weight loss, Reduced C-peptide level, Neoplasia of the pleura, Neoplasm of the lung	ORPHA:2126
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R...	ORPHA:221139
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Pneumonia, Nephritis, Abnormality of body weight, Leukopenia, Skin rash, Decreas...	ORPHA:2298
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Recurrent aspiration pneumonia, Sepsis	ORPHA:204
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-...	OMIM:617099
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Brain abscess, Severe ...	ORPHA:544482
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abno...	ORPHA:398063
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Cachexia, Arthritis, Myocarditis, Anemi...	ORPHA:3452
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ...	OMIM:615444
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