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3. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Author

Puck, Jennifer, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, and Klein, C

Abstract

© 2015, The Author(s).We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous ve

Published
2015

4. A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay)

Author

Yel, L, Rabbat, CJ, Cunningham-Rundles, C, Orange, JS, Torgerson, TR, Verbsky, JW, Wang, Y, Fu, M, Robins, TS, Edwards, MS, and Nymann-Andersen, J

Subjects
Immunology
Abstract

Purpose: To develop an assay to quantify serum immunoglobulin (IgG, IgM, IgA) levels using dried blood spots (DBS) obtained on collection cards to be used as a tool for targeted screening for hypogammaglobulinemia. Methods: DBS samples, along with simultaneous serum samples, were collected from 107 healthy individuals (11 months to 57 years of age). After eluting proteins from DBS, IgG, IgM, and IgA were quantified by an enzyme-linked immunosorbent assay (ELISA). The Ig-DBS assay was validated through calibration curve performance, intra- and inter-assay precision, accuracy, specificity, selectivity, and linearity. The ELISA measurements were compared with serum Ig levels obtained using a standard nephelometry assay on serum samples collected simultaneously with the DBS samples and the results of the two assays were correlated. The stability of IgG, IgM, and IgA in the DBS was tested at room temperature, 36° to 38 °C, 2 to 8 °C, and −25 to −40 °C, from 4 to 14 days. Results: The Ig-DBS assay demonstrated precision, accuracy, specificity, selectivity, and linearity. Using the identified correlation coefficients of 0.834 for IgG, 0.789 for IgM, and 0.918 for IgA, the standard nephelometry-based normal reference ranges for all 3 serum Ig isotypes could be used with the Ig-DBS assay in individuals ≥16 years of age. The DBS samples were stable for 14 days at room temperature in a closed polyethylene bag. Conclusions: The Ig-DBS assay is both sensitive and accurate for quantification of serum immunoglobulins. Samples are sufficiently stable at ambient temperature to allow for convenient shipping and analysis at a centralized laboratory. This assay therefore presents a new option for screening patients ≥16 years of age for hypogammaglobulinemia in any setting.

Published
2015

5. Autoimmunity and Inflammation in X-linked Agammaglobulinemia

Author

Hernandez-Trujillo, VP, Scalchunes, C, Cunningham-Rundles, C, Ochs, HD, Bonilla, FA, Paris, K, Yel, L, and Sullivan, KE

Subjects
Immunology
Abstract

Purpose: In the past, XLA was described as associated with several inflammatory conditions, but with adequate immune globulin treatment, these are presumed to have diminished. The actual prevalence is not known.

Published
2014

8. Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Author

Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Gaspar, HB, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Picard, C, Puck, JM, Sullivan, K, and Tang, ML

Subjects
IUIS, classification, gene defects, genotype, immunodeficiency, Immunology
Abstract

[This corrects the article on p. 162 in vol. 5, PMID: 24795713.].

Published
2014

9. TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell tolerance.

Author

Çakan, E., Ah Kioon, M.D., Garcia-Carmona, Y., Glauzy, S., Oliver, D., Yamakawa, N., Vega Loza, A, Du, Y., Schickel, J.N., Boeckers, J.M., Yang, C., Baldo, A., Ivashkiv, L.B., Young, R.M., Staudt, L.M., Moody, K.L., Nündel, K., Marshak-Rothstein, A., Made, C.I. van der, Hoischen, A., Hayward, A., Rossato, M., Radstake, T.R.D.J., Cunningham-Rundles, C., Ryu, C., Herzog, E.L., Barrat, F.J., Meffre, E., Çakan, E., Ah Kioon, M.D., Garcia-Carmona, Y., Glauzy, S., Oliver, D., Yamakawa, N., Vega Loza, A, Du, Y., Schickel, J.N., Boeckers, J.M., Yang, C., Baldo, A., Ivashkiv, L.B., Young, R.M., Staudt, L.M., Moody, K.L., Nündel, K., Marshak-Rothstein, A., Made, C.I. van der, Hoischen, A., Hayward, A., Rossato, M., Radstake, T.R.D.J., Cunningham-Rundles, C., Ryu, C., Herzog, E.L., Barrat, F.J., and Meffre, E.

Abstract

Item does not contain fulltext, Central B cell tolerance is believed to be regulated by B cell receptor signaling induced by the recognition of self-antigens in immature B cells. Using humanized mice with defective MyD88, TLR7, or TLR9 expression, we demonstrate that TLR9/MYD88 are required for central B cell tolerance and the removal of developing autoreactive clones. We also show that CXCL4, a chemokine involved in systemic sclerosis (SSc), abrogates TLR9 function in B cells by sequestering TLR9 ligands away from the endosomal compartments where this receptor resides. The in vivo production of CXCL4 thereby impedes both TLR9 responses in B cells and the establishment of central B cell tolerance. We conclude that TLR9 plays an essential early tolerogenic function required for the establishment of central B cell tolerance and that correcting defective TLR9 function in B cells from SSc patients may represent a novel therapeutic strategy to restore B cell tolerance.

Published
2023

12. Allergic Rhinitis

Author

Leung, Donald Y M, Akdis, Cezmi A; https://orcid.org/0000-0001-8020-019X, Bacharier, L B, Cunningham-Rundles, C, Leung, D Y M ( Donald Y M ), Akdis, C A ( Cezmi A ), Bacharier, L B ( L B ), Cunningham-Rundles, C ( C ), Eiwegger, Thomas, Soyka, Michael B, Leung, Donald Y M, Akdis, Cezmi A; https://orcid.org/0000-0001-8020-019X, Bacharier, L B, Cunningham-Rundles, C, Leung, D Y M ( Donald Y M ), Akdis, C A ( Cezmi A ), Bacharier, L B ( L B ), Cunningham-Rundles, C ( C ), Eiwegger, Thomas, and Soyka, Michael B

Published
2020

19. B cell-helper neutrophils stimulate immunoglobulin diversification and production: 1.18

Author

Puga, I., Cols, M., Barra, C. M., He, B., Cassis, L., Gentile, M., Comerma, L., Chorny, A., Shan, M., Xu, W., Magri, G., Knowles, D. M., Tam, W., Chiu, A., Bussel, J. B., Serrano, S., Lorente, J. A., Bellosillo, B., Lloreta, J., Juanpere, N., Alameda, F., Baró, T., de Heredia, C. D., Torán, N., Català, A., Torrebadell, M., Fortuny, C., Cusí, V., Carreras, C., Diaz, G. A., Blander, Magarian J., Farber, C. F., Silvestri, G., Cunningham-Rundles, C., Calvillo, M., Dufour, C., Notarangelo, L. D., Lougaris, V., Plebani, A., Casanova, J. L., Ganal, S. C., Diefenbach, A., Aróstegui, J. I., Juan, M., Yagüe, J., Mahlaoui, N., Donadieu, J., Chen, K., and Cerutti, A.

Published
2013

26. Gut T cell–independent IgA responses to commensal bacteria require engagement of the TACI receptor on B cells

Author

Grasset, E. K., primary, Chorny, A., additional, Casas-Recasens, S., additional, Gutzeit, C., additional, Bongers, G., additional, Thomsen, I., additional, Chen, L., additional, He, Z., additional, Matthews, D. B., additional, Oropallo, M. A., additional, Veeramreddy, P., additional, Uzzan, M., additional, Mortha, A., additional, Carrillo, J., additional, Reis, B. S., additional, Ramanujam, M., additional, Sintes, J., additional, Magri, G., additional, Maglione, P. J., additional, Cunningham-Rundles, C., additional, Bram, R. J., additional, Faith, J., additional, Mehandru, S., additional, Pabst, O., additional, and Cerutti, A., additional

Published
2020
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27. Immunodeficiencies

Author

Ballow, M., Notarangelo, L., Grimbacher, B., Cunningham-Rundles, C., Stein, M., Helbert, M., Gathmann, B., Kindle, G., Knight, A. K., Ochs, H. D., Sullivan, K., and Franco, J. L.

Published
2009
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29. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Author

Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., Vries, E de, Meer, J.W.M. van der, Ameratunga, R., Roifman, C.M., Schejter, Y.D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R.E., Schröder, C., Stepensky, P., Shadur, B., Pedroza, L.A., Flier, M. van der, Martínez-Gallo, M., Gonzalez-Granado, L.I., Allende, L.M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J.F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Vilela, M.M. Dos Santos, Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C.A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H.L., Thaventhiran, J.E., Freeman, A.F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N.C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M.R.J., Burns, S.O., Tuijnenburg, P., Kuijpers, T.W., Warnatz, K., Grimbacher, B., Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., Vries, E de, Meer, J.W.M. van der, Ameratunga, R., Roifman, C.M., Schejter, Y.D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R.E., Schröder, C., Stepensky, P., Shadur, B., Pedroza, L.A., Flier, M. van der, Martínez-Gallo, M., Gonzalez-Granado, L.I., Allende, L.M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J.F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Vilela, M.M. Dos Santos, Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C.A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H.L., Thaventhiran, J.E., Freeman, A.F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N.C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M.R.J., Burns, S.O., Tuijnenburg, P., Kuijpers, T.W., Warnatz, K., and Grimbacher, B.

Abstract

Item does not contain fulltext, BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESULTS: We classified 56 of the 105 distinct NFKB1 variants in 157 individuals from 68 unrelated families as pathogenic. Incomplete clinical penetrance (70%) and age-dependent severity of NFKB1-related phenotypes were observed. The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (28.6%) infections, thus characterizing the disorder as primary immunodeficiency. However, the high frequency of autoimmunity (57.4%), lymphoproliferation (52.4%), noninfectious enteropathy (23.1%), opportunistic infections (15.7%), autoinflammation (29.6%), and malignancy (16.8%) identified NF-κB1-related disease as an inborn error of immunity with immune dysregulation, rather than a mere primary immunodeficiency. Current treatment includes immunoglobulin replacement and immunosuppressive agents. CONCLUSIONS: We present a comprehensive clinical overview of the NF-κB1-related phenotype, which includes immunodeficiency, autoimmunity, autoinflammation, and cancer. Because of its multisystem involvement, clinicians from each and every medical discipline need to be made aware of this autosomal-dominant disease. Hematopoietic stem cell transplantation and NF-κB1 pathway-targeted therapeutic strategies should be considered in the future.

Published
2020

43. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N., Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., and Robinson, P.N.

Abstract

The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2019

44. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Author

Schwab, C., Gabrysch, A., Olbrich, P., Patino, V., Warnatz, K., Wolff, D., Hoshino, A., Kobayashi, M., Imai, K., Takagi, M., Dybedal, I., Haddock, J.A., Sansom, D.M., Lucena, J.M., Seidl, M., Schmitt-Graeff, A., Reiser, V., Emmerich, F., Frede, N., Bulashevska, A., Salzer, U., Schubert, Desiree, Hayakawa, S., Okada, S., Kanariou, M., Kucuk, Z.Y., Chapdelaine, H., Petruzelkova, L., Sumnik, Z., Sediva, A., Slatter, M., Arkwright, P.D., Cant, A., Lorenz, H.M., Giese, T., Lougaris, V., Plebani, A., Price, C., Sullivan, K.E., Moutschen, M., Litzman, J., Freiberger, T., Veerdonk, F.L. van de, Recher, M., Albert, M.H., Hauck, F., Seneviratne, S., Schmid, J., Kolios, A., Unglik, G., Klemann, C., Speckmann, C., Ehl, S., Leichtner, A., Blumberg, R., Franke, A., Snapper, S., Zeissig, S., Cunningham-Rundles, C., Giulino-Roth, L., Elemento, O., Duckers, G., Niehues, T., Fronkova, E., Kanderova, V., Platt, C.D., Chou, J., Chatila, T.A., Geha, R., McDermott, E., Bunn, S., Kurzai, M., Schulz, A., Alsina, L., Casals, F., Deya-Martinez, A., Hambleton, S., Kanegane, H., Tasken, K., Neth, O., Grimbacher, B., Schwab, C., Gabrysch, A., Olbrich, P., Patino, V., Warnatz, K., Wolff, D., Hoshino, A., Kobayashi, M., Imai, K., Takagi, M., Dybedal, I., Haddock, J.A., Sansom, D.M., Lucena, J.M., Seidl, M., Schmitt-Graeff, A., Reiser, V., Emmerich, F., Frede, N., Bulashevska, A., Salzer, U., Schubert, Desiree, Hayakawa, S., Okada, S., Kanariou, M., Kucuk, Z.Y., Chapdelaine, H., Petruzelkova, L., Sumnik, Z., Sediva, A., Slatter, M., Arkwright, P.D., Cant, A., Lorenz, H.M., Giese, T., Lougaris, V., Plebani, A., Price, C., Sullivan, K.E., Moutschen, M., Litzman, J., Freiberger, T., Veerdonk, F.L. van de, Recher, M., Albert, M.H., Hauck, F., Seneviratne, S., Schmid, J., Kolios, A., Unglik, G., Klemann, C., Speckmann, C., Ehl, S., Leichtner, A., Blumberg, R., Franke, A., Snapper, S., Zeissig, S., Cunningham-Rundles, C., Giulino-Roth, L., Elemento, O., Duckers, G., Niehues, T., Fronkova, E., Kanderova, V., Platt, C.D., Chou, J., Chatila, T.A., Geha, R., McDermott, E., Bunn, S., Kurzai, M., Schulz, A., Alsina, L., Casals, F., Deya-Martinez, A., Hambleton, S., Kanegane, H., Tasken, K., Neth, O., and Grimbacher, B.

Abstract

Item does not contain fulltext, BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers. RESULTS: We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years, and the mortality rate within affected mutation carriers was 16% (n = 15). Main clinical manifestations included hypogammaglobulinemia (84%), lymphoproliferation (73%), autoimmune cytopenia (62%), and respiratory (68%), gastrointestinal (59%), or neurological features (29%). Eight affected mutation carriers had lymphoma, and 3 had gastric cancer. An EBV association was found in 6 patients with malignancies. CTLA4 mutations were associated with lymphopenia and decreased T-, B-, and natural killer (NK) cell counts. Successful targeted therapies included application of CTLA-4 fusion proteins, mechanistic target of rapamycin inhibitors, and hematopoietic stem cell transplantation. EBV reactivation occurred in 2 affected mutation carriers after immunosuppression. CONCLUSIONS: Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.

Published
2018

45. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B, Danis, D., Gourdine, J-P, Gargano, M., Harris, N.L, Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A, Mungall, C., Robinson, P.N., Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B, Danis, D., Gourdine, J-P, Gargano, M., Harris, N.L, Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A, Mungall, C., and Robinson, P.N.

Abstract

The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2018

46. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Bousfiha, A, Jeddane, L, Picard, C, Ailal, F, Gaspar, HB, Al-Herz, W, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Casanova, J-L, Sullivan, KE, Bousfiha, A, Jeddane, L, Picard, C, Ailal, F, Gaspar, HB, Al-Herz, W, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Casanova, J-L, and Sullivan, KE

Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

Published
2018

47. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Author

Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Sullivan, KE, Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, and Sullivan, KE

Abstract

Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide.

Published
2018

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