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  1. Article ; Online: Omenn syndrome in a 10-month-old male with athymia and VACTERL association.

    Pangli, Bimaljit K / Braddock, Stephen R / Knutsen, Alan P

    The journal of allergy and clinical immunology. Global

    2023  Volume 2, Issue 4, Page(s) 100153

    Abstract: We describe the case of a 10-month-old boy with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association and athymia who developed Omenn syndrome. ...

    Abstract We describe the case of a 10-month-old boy with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association and athymia who developed Omenn syndrome.
    Language English
    Publishing date 2023-07-24
    Publishing country United States
    Document type Case Reports
    ISSN 2772-8293
    ISSN (online) 2772-8293
    DOI 10.1016/j.jacig.2023.100153
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  2. Article ; Online: Genetic and respiratory tract risk factors for aspergillosis: ABPA and asthma with fungal sensitization.

    Knutsen, Alan P

    Medical mycology

    2018  Volume 44, Issue Supplement_1, Page(s) S61–S70

    Abstract: Allergic bronchopulmonary aspergillosis (ABPA) is a Th2 allergic hypersensitivity lung disease due to bronchial colonization of Aspergillus fumigatus that affects 1-2% of asthmatic and 7-9% of cystic fibrosis (CF) patients. We hypothesize that genetic ... ...

    Abstract Allergic bronchopulmonary aspergillosis (ABPA) is a Th2 allergic hypersensitivity lung disease due to bronchial colonization of Aspergillus fumigatus that affects 1-2% of asthmatic and 7-9% of cystic fibrosis (CF) patients. We hypothesize that genetic risk factors predispose these patients to develop ABPA. We previously reported HLA-DR2 and DR5 restriction as a risk factor for the development of ABPA. We further propose that HLA-DR restriction is necessary but not sufficient for the development of ABPA. Recently, we reported that IL-4Rα single nucleotide polymorphisms (SNP) and in particular the ile75val SNP in the IL-4 binding region is another risk factor and is associated with increased sensitivity to IL-4 stimulation. It has been reported that the combination of IL-4Rα and IL-13 SNP, ile75val/arg110gln, is associated with more severe asthma. In preliminary studies, we have observed increased frequency of this combination in ABPA asthmatic and CF patients. Another genetic risk factor reported by Brouard et al. is the -1082 GG genotype in the IL-10 promoter in CF patients for the colonization of A. fumigatus and development of ABPA. This genotype was associated with increased plasma IL-10 levels, and perhaps may be associated with increased skewing of Th2 Aspergillus responses rather than down-regulation of inflammatory responses. We hypothesize that increased sensitivity of IL-4 mediated activities secondary to polymorphisms IL-4R in conjunction of other polymorphisms such as IL-13 and IL-10 in conjunction with HLA-DR2/DR5 restriction to Aspergillus antigens in ABPA patients result in increased B-cell activity, monocyte/dendritic cell phenotype that skews Th2 responses, and skewing of Aspergillus-specific Th2 cells. This model system may be applicable to other fungi such as Alternaria and Cladosporium which is associated with increased asthma severity.
    Language English
    Publishing date 2018-07-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 1421796-x
    ISSN 1460-2709 ; 1369-3786
    ISSN (online) 1460-2709
    ISSN 1369-3786
    DOI 10.1080/13693780600789178
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    Zs.A 520: Show issues Location:
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  3. Article ; Online: Tumor necrosis factor receptor-associated periodic syndrome in a pediatric patient: A genetic diagnosis.

    Yakhmi, Neha / Knutsen, Alan P

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2020  Volume 125, Issue 4, Page(s) 369–371

    MeSH term(s) Antibodies, Monoclonal, Humanized/therapeutic use ; Child ; Female ; Fever/diagnosis ; Fever/drug therapy ; Fever/genetics ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/drug therapy ; Hereditary Autoinflammatory Diseases/genetics ; Humans ; Mutation ; Receptors, Tumor Necrosis Factor, Type I/genetics
    Chemical Substances Antibodies, Monoclonal, Humanized ; Receptors, Tumor Necrosis Factor, Type I ; TNFRSF1A protein, human ; canakinumab (37CQ2C7X93)
    Language English
    Publishing date 2020-05-04
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2020.04.029
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  4. Article ; Online: Allergic bronchopulmonary aspergillosis in asthma.

    Knutsen, Alan P

    Expert review of clinical immunology

    2016  Volume 13, Issue 1, Page(s) 11–14

    MeSH term(s) Airway Obstruction ; Allergens/immunology ; Aspergillosis, Allergic Bronchopulmonary/complications ; Aspergillosis, Allergic Bronchopulmonary/immunology ; Aspergillus fumigatus/physiology ; Asthma/complications ; Asthma/immunology ; Eosinophils/immunology ; Fungal Proteins/immunology ; Humans ; Immunoglobulin E/metabolism ; Inflammation/complications ; Inflammation/immunology ; Th2 Cells/immunology
    Chemical Substances Allergens ; Fungal Proteins ; Immunoglobulin E (37341-29-0)
    Language English
    Publishing date 2016-09-22
    Publishing country England
    Document type Editorial
    ZDB-ID 2274260-8
    ISSN 1744-8409 ; 1744-666X
    ISSN (online) 1744-8409
    ISSN 1744-666X
    DOI 10.1080/1744666X.2017.1232620
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  5. Article ; Online: Safety and Efficacy of Dupilumab in an Atopic Adolescent With Primary Immune Deficiency.

    Tanner, Jordan F / Knutsen, Alan P / Siegfried, Elaine

    Dermatitis : contact, atopic, occupational, drug

    2021  Volume 32, Issue 1S, Page(s) e91–e92

    MeSH term(s) Adolescent ; Antibodies, Monoclonal, Humanized/adverse effects ; Antibodies, Monoclonal, Humanized/therapeutic use ; Dermatitis, Atopic/complications ; Dermatitis, Atopic/drug therapy ; Dermatologic Agents/therapeutic use ; Humans ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/drug therapy ; Treatment Outcome
    Chemical Substances Antibodies, Monoclonal, Humanized ; Dermatologic Agents ; dupilumab (420K487FSG)
    Language English
    Publishing date 2021-10-20
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 2144723-8
    ISSN 2162-5220 ; 1532-8163 ; 1710-3568
    ISSN (online) 2162-5220 ; 1532-8163
    ISSN 1710-3568
    DOI 10.1097/DER.0000000000000712
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  6. Article ; Online: Treatment of severe atopic dermatitis and eosinophilic esophagitis with dupilumab in a 14-year-old boy with autosomal dominant hyper-IgE syndrome.

    Dixit, Cheshil / Thatayatikom, Akaluck / Pappa, Helen / Knutsen, Alan P

    The journal of allergy and clinical immunology. In practice

    2021  Volume 9, Issue 11, Page(s) 4167–4169

    MeSH term(s) Adolescent ; Antibodies, Monoclonal, Humanized ; Dermatitis, Atopic/diagnosis ; Dermatitis, Atopic/drug therapy ; Eosinophilic Esophagitis/diagnosis ; Eosinophilic Esophagitis/drug therapy ; Humans ; Job Syndrome ; Male
    Chemical Substances Antibodies, Monoclonal, Humanized ; dupilumab (420K487FSG)
    Language English
    Publishing date 2021-07-16
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2021.06.049
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  7. Article ; Online: Complement factor I deficiency in a 3-year-old boy with glomerulonephritis.

    Donegan, Ravneet / Mathew, Sonia / Knutsen, Alan P

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2020  Volume 125, Issue 5, Page(s) 613–614

    MeSH term(s) Child, Preschool ; Complement C3/deficiency ; Glomerulonephritis/etiology ; Glomerulonephritis/immunology ; Hereditary Complement Deficiency Diseases/diagnosis ; Humans ; Male
    Chemical Substances Complement C3
    Language English
    Publishing date 2020-07-17
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2020.07.008
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  8. Article ; Online: 50 years ago in the Journal of Pediatrics: Allergic properties of milk and milk proteins: a study of anaphylaxis in guinea pigs.

    Knutsen, Alan P

    The Journal of pediatrics

    2013  Volume 163, Issue 2, Page(s) 470

    MeSH term(s) Anaphylaxis/history ; Anaphylaxis/immunology ; Animals ; Guinea Pigs ; History, 20th Century ; Milk Hypersensitivity/history ; Milk Hypersensitivity/immunology ; Milk Proteins/history ; Milk Proteins/immunology
    Chemical Substances Milk Proteins
    Language English
    Publishing date 2013-08
    Publishing country United States
    Document type Historical Article ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2013.02.038
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  9. Article ; Online: Bronchiectasis.

    Kelly, Brian T / Knutsen, Alan P / Routes, John M

    The journal of allergy and clinical immunology. In practice

    2018  Volume 6, Issue 1, Page(s) 315–316

    MeSH term(s) Antibodies, Fungal/blood ; Aspergillosis, Allergic Bronchopulmonary/diagnosis ; Aspergillosis, Allergic Bronchopulmonary/therapy ; Aspergillus/physiology ; Asthma/diagnosis ; Asthma/therapy ; Bronchiectasis/diagnosis ; Bronchiectasis/therapy ; Female ; Humans ; Immunoglobulin E/metabolism ; Itraconazole/therapeutic use ; Lung/microbiology ; Lung/physiology ; Middle Aged ; Pedigree ; Physical Therapy Modalities ; Prednisone/therapeutic use ; Respiratory Sounds
    Chemical Substances Antibodies, Fungal ; Itraconazole (304NUG5GF4) ; Immunoglobulin E (37341-29-0) ; Prednisone (VB0R961HZT)
    Language English
    Publishing date 2018-01-04
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2017.07.011
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  10. Article ; Online: Immunopathology and immunogenetics of allergic bronchopulmonary aspergillosis.

    Knutsen, Alan P

    publication RETRACTED

    Journal of allergy

    2011  Volume 2011, Page(s) 785983

    Abstract: Allergic bronchopulmonary aspergillosis (ABPA) is a Th2 hypersensitivity lung disease in response to Aspergillus fumigatus that affects asthmatic and cystic fibrosis (CF) patients. Sensitization to A. fumigatus is common in both atopic asthmatic and CF ... ...

    Abstract Allergic bronchopulmonary aspergillosis (ABPA) is a Th2 hypersensitivity lung disease in response to Aspergillus fumigatus that affects asthmatic and cystic fibrosis (CF) patients. Sensitization to A. fumigatus is common in both atopic asthmatic and CF patients, yet only 1%-2% of asthmatic and 7%-9% of CF patients develop ABPA. ABPA is characterized by wheezing and pulmonary infiltrates which may lead to pulmonary fibrosis and/or bronchiectasis. The inflammatory response is characterized by Th2 responses to Aspergillus allergens, increased serum IgE, and eosinophilia. A number of genetic risks have recently been identified in the development of ABPA. These include HLA-DR and HLA-DQ, IL-4 receptor alpha chain (IL-4RA) polymorphisms, IL-10 -1082GA promoter polymorphisms, surfactant protein A2 (SP-A2) polymorphisms, and cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations. The studies indicate that ABPA patients are genetically at risk to develop skewed and heightened Th2 responses to A. fumigatus antigens. These genetic risk studies and their consequences of elevated biologic markers may aid in identifying asthmatic and CF patients who are at risk to the development of ABPA. Furthermore, these studies suggest that immune modulation with medications such as anti-IgE, anti-IL-4, and/or IL-13 monoclonal antibodies may be helpful in the treatment of ABPA.
    Language English
    Publishing date 2011-09-28
    Publishing country United States
    Document type Journal Article ; Retracted Publication
    ZDB-ID 2571416-8
    ISSN 1687-9791 ; 1687-9783
    ISSN (online) 1687-9791
    ISSN 1687-9783
    DOI 10.1155/2011/785983
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