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Gene: Bpifa1 MGI:1338036

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BPI fold containing family A, member 1
Synonyms:
Plunc,  SPLUNC1

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 Bpifa1 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.

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

The table below shows human diseases predicted to be associated to Bpifa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating total IgM... OMIM:613493
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:613502
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Recurrent bacterial infections, Increased circulating IgM level, Recurrent upper an... OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:612692
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,... OMIM:269840
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... OMIM:617638
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Immunodeficiency 104
Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Otitis ... OMIM:608971
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... ORPHA:70578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... OMIM:601457
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Decreased circula... OMIM:607594
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Ciliary Dyskinesia, Primary, 33
Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis... OMIM:616726
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... ORPHA:183675
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Decreased ci... ORPHA:397596
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Agammaglobulinemia, De... OMIM:300400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... OMIM:300636
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... ORPHA:169160
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... OMIM:615513
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif... OMIM:607271
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Abnormal immunoglobu... ORPHA:276
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Increased circulating IgM level, Decreased circulating IgE, Decre... OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Increased circulating IgG level, I... OMIM:619220
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Recurrent bacterial ... OMIM:619693
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... ORPHA:98813
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Increased circulating IgE lev... OMIM:147060
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Recurrent infections, Persistent EBV... OMIM:617514
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Increased ci... ORPHA:2688
Immunodeficiency 109 With Lymphoproliferation
Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Recurrent lower respiratory tract in... OMIM:620282
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, BCGitis, Recurrent infect... OMIM:226990
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... OMIM:616005
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment OMIM:610738
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Microlissencephaly
Pneumonia ORPHA:1083
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Aspiration pneumonia OMIM:609528
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunct... ORPHA:3392
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Abnormal ... OMIM:308230
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia ORPHA:85179
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Sc... OMIM:619652
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Specific Granule Deficiency 2
Abnormal pinna morphology, Posteriorly rotated ears, Recurrent pneumonia, Sepsis, Recurrent bacte... OMIM:617475
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Conduc... ORPHA:443811
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis ... OMIM:620321
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se... OMIM:606367
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta... OMIM:618523
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Increased circulati... OMIM:618048
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... OMIM:615816
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organi... OMIM:615518
Agammaglobulinemia, X-Linked
Sepsis, Conjunctivitis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, I... OMIM:300755
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Abnormalit... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... ORPHA:158061
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Respiratory t... ORPHA:31202
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Recur... ORPHA:331206
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Lym... OMIM:618495
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n... OMIM:618063
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Sepsis, S... ORPHA:36238
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... OMIM:618394
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Meningitis, Sensorineural hearing impairment, Uveitis, Restrict... ORPHA:36412
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o... OMIM:613179
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Increased circulating I... OMIM:209950
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Conductive hearing impairment, Bronchiectasis, Immotile cilia, Chronic rh... OMIM:244400
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch... OMIM:241600
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou... ORPHA:228119
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Low-set ears, Chronic bron... OMIM:242860
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Recurren... OMIM:300291
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... ORPHA:79124
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia ORPHA:99772
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... ORPHA:420741
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent infections, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... ORPHA:2357
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Decreased circulating antibody level... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Recurrent otit... OMIM:600802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis,... OMIM:602450
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Respiratory insufficiency due to muscle weakness... ORPHA:2590
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... OMIM:615952
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... OMIM:616433
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Ciliary Dyskinesia, Primary, 37
Rhinorrhea, Wheezing, Bronchiectasis, Chronic rhinitis, Hearing impairment OMIM:617577
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual in... ORPHA:781
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Colitis, ... OMIM:301220
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage OMIM:603585
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract in... ORPHA:544482
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Pneumonia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Nephritis, Infectious enceph... ORPHA:2552
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Hermansky-Pudlak Syndrome 2
Posteriorly rotated ears, Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Pul... OMIM:608233
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis, Aspiration pneumonia OMIM:617053
Omenn Syndrome
Sepsis, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ... OMIM:619381
Listeriosis
Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis,... ORPHA:533
Coccidioidomycosis
Respiratory distress, Increased circulating IgG level, Morbilliform rash, Cough, Pneumonia, Eryth... ORPHA:228123
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Sensorineural hearing impairment, Macrotia, Decreased circulating... OMIM:248500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ... ORPHA:293978
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Hearing impairment, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... OMIM:158310
Brucellosis
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid... ORPHA:1304
Immunodeficiency 47
Sensorineural hearing impairment, Decreased circulating antibody level, Recurrent infections, Rec... OMIM:300972
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Decreased circulating IgG2 level, S... OMIM:242840
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Skin rash, Epistaxis, Recu... ORPHA:167
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ... ORPHA:314655
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Recurrent bacterial infections, Inflammation of the large intestine, Eryth... OMIM:615895
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Posteriorly rotated ears, Low-set ears OMIM:241410
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Sepsis, Recur... ORPHA:811
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Recurrent pneumonia, Cupped ear, Low-... OMIM:300472
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... OMIM:607944
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivit... ORPHA:810
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... ORPHA:340
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Persistent EBV... OMIM:619573
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni... OMIM:214500
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Skin rash, Pneumonia ORPHA:247691
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, In... OMIM:615846
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurrent bacterial infections, ... ORPHA:79259
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Sensorineu... ORPHA:1018
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, Microtia, Conductive hearing impairment, Hearing impairment ORPHA:2135
Gm1 Gangliosidosis
Recurrent respiratory infections, Low-set ears, Aspiration pneumonia, Macrotia, Infectious enceph... ORPHA:354
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Increased circulating IgG ... ORPHA:449395
Lysinuric Protein Intolerance
Glomerulonephritis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Decreased... ORPHA:470
Sickle Cell Disease
Hypoxemia, Recurrent bacterial infections OMIM:603903
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Mixed hearing impairment, Pneumonia, Sensorineural hearing im... ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Sensorineural hearing impairment, Aspiration pneumonia OMIM:616430
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Poly... ORPHA:171
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Increased circulating IgG ... ORPHA:2298
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Mixed hearing impairment, Thickened helices, Abnormality of t... ORPHA:581
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Chops Syndrome
Thickened helices, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chron... OMIM:616368
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... ORPHA:68
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia, Pneumonia OMIM:603467
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Meningitis, Entero... ORPHA:707
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Pulmonar... OMIM:253200
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Marshall-Smith Syndrome
Apnea, Hearing impairment, Recurrent upper respiratory tract infections, Stridor, Bilateral condu... OMIM:602535
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Cornelia De Lange Syndrome 1
Pneumonia, Abnormal incisura morphology, Sensorineural hearing impairment, Otitis media, Low-set ... OMIM:122470
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Aspiration pneumonia, Hearing impairment ORPHA:79255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Degcags Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Pneumonia, Hearing impairment, Asth... OMIM:619488
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Recurrent urinary tract infections, Aspiration pneumonia, Se... ORPHA:99027
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Tay-Sachs Disease
Aspiration pneumonia, Hearing impairment ORPHA:845
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Conductive hearing impairment, Asthm... ORPHA:444077
Coffin-Siris Syndrome
Hearing impairment, Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent... ORPHA:1465
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hearing impairment, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Sensorin... ORPHA:353281
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Peritonitis, Sepsis, Co... OMIM:619991
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Sensorin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Sensorin... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Posteriorly rotated ears, Pneumonia, Low-set ears, Small earlob... OMIM:264090
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Semilobar Holoprosencephaly
Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Abnormal pattern of respir... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Abnormal pattern of respir... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Abnormal pattern of respir... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Abnormal pattern of respir... ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, H... ORPHA:646
Kabuki Syndrome 1
Posteriorly rotated ears, Protruding ear, Recurrent infections, Low-set ears, Recurrent otitis me... OMIM:147920
Doors Syndrome
Respiratory distress, Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Yunis-Varon Syndrome
Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominent antihelix, Microtia, Aspi... OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Abnormal pinna morphology, Aspiration pneumonia, Macrotia ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bpifa1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bpifa1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SPLUNC1 deficiency enhances airway eosinophilic inflammation in mice. American journal of respiratory cell and molecular biology (April 2012) Bpifa1tm1(KOMP)Vlcg PMC3423460
SPLUNC1 promotes lung innate defense against Mycoplasma pneumoniae infection in mice. The American journal of pathology (May 2011) Bpifa1tm1(KOMP)Vlcg PMC3081195

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bpifa1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bpifa1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bpifa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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