Works matching DE "JOB'S syndrome"


Results: 135
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    Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.

    Published in:
    Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1057679
    By:
    • Roukaya Yaakoubi;
    • Mekki, Najla;
    • Ben-Mustapha, Imen;
    • Ben-Khemis, Leila;
    • Bouaziz, Asma;
    • Fraj, Ilhem Ben;
    • Ammar, Jamel;
    • Hamzaoui, Agnès;
    • Turki, Hamida;
    • Boussofara, Lobna;
    • Denguezli, Mohamed;
    • Haddad, Samir;
    • Ouederni, Monia;
    • Bejaoui, Mohamed;
    • Koon Wing Chan;
    • Yu Lung Lau;
    • Mellouli, Fethi;
    • Barbouche, Mohamed-Ridha;
    • Ben-Ali, Meriem
    Publication type:
    Article
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    Inborn errors of immunity and related microbiome.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.982772
    By:
    • Hazime, Raja;
    • Eddehbi, Fatima-Ezzohra;
    • Mojadili, Saad El;
    • Lakhouaja, Nadia;
    • Souli, Ikram;
    • Salami, Abdelmouïne;
    • M'Raouni, Bouchra;
    • Brahim, Imane;
    • Oujidi, Mohamed;
    • Guennouni, Morad;
    • Bousfiha, Ahmed Aziz;
    • Admou, Brahim
    Publication type:
    Article
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    Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1402038
    By:
    • Tahiat, Azzeddine;
    • Belbouab, Reda;
    • Yagoubi, Abdelghani;
    • Hakem, Saliha;
    • Fernini, Faiza;
    • Keddari, Malika;
    • Belhadj, Hayet;
    • Touri, Souad;
    • Aggoune, Samira;
    • Stoddard, Jennifer;
    • Niemela, Julie;
    • Zerifi, Farida;
    • Melzi, Souhila;
    • Aboura, Rawda;
    • Saad-Djaballah, Amina;
    • Ferhani, Yacine;
    • Ketfi, Abdalbasset;
    • Messaoudi, Hassen;
    • Madani, Tahar Bencharif;
    • Benhacine, Zouleikha
    Publication type:
    Article
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    Job-Buckley syndrome: a case report and literature review.

    Published in:
    Polish Journal of Thoracic & Cardiovascular Surgery / Kardiochirurgia i Torakochirurgia Polska, 2024, v. 21, n. 3, p. 191, doi. 10.5114/kitp.2024.143460
    By:
    • Ramdani, Mohammed;
    • El Hammoumi, Massine M.;
    • Kabiri, El Hassane
    Publication type:
    Article
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    Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.

    Published in:
    Pediatric Allergy & Immunology, 2024, v. 35, n. 2, p. 1, doi. 10.1111/pai.14073
    By:
    • Liquidano‐Perez, Eduardo;
    • Maza‐Ramos, Gibert;
    • Perez Arias, Bethy Alexandra;
    • Lugo Reyes, Saul Oswaldo;
    • Barragan Arevalo, Tania;
    • Solorzano‐Morales, Sara Alejandra;
    • Venegas Montoya, Edna;
    • Staines‐Boone, Aidé Tamara;
    • Guzmán Cotaya, Rogelio;
    • Okada, Satoshi;
    • Picard, Capucine;
    • Patin, Etienne;
    • Ramirez‐Uribe, Nideshda;
    • Bustamante‐Ogando, Juan Carlos;
    • Scheffler‐Mendoza, Selma Cecilia;
    • Yamazaki‐Nakashimada, Marco Antonio;
    • Saez‐de‐Ocariz, Marimar;
    • Espinosa Padilla, Sara Elva;
    • Gonzalez‐Serrano, Maria Edith
    Publication type:
    Article
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    Lymphomatoid granulomatosis in a patient with DOCK8 deficiency.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, n. 6, p. 1, doi. 10.1111/pai.13804
    By:
    • Liquidano‐Perez, Eduardo;
    • Alva‐Chaire, Adriana del Carmen;
    • Yamazaki‐Nakashimada, Marco Antonio;
    • Pesantez Abril, Ángela Andrea;
    • Solorzano Morales, Sara Alejandra;
    • Ramírez Ristori, Alfonso G.;
    • Barragán Arévalo, Tania;
    • Gonzalez‐Serrano, María Edith;
    • Scheffler‐Mendoza, Selma C.;
    • Rodríguez‐Jurado, Rodolfo
    Publication type:
    Article
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    Novel mutations of TYK2 leading to divergent clinical phenotypes.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13671
    By:
    • Lv, Ge;
    • Sun, Gan;
    • Wu, Peilin;
    • Du, Xiao;
    • Zeng, Ting;
    • Wen, Wen;
    • Zhou, Lina;
    • An, Yunfei;
    • Tang, Xuemei;
    • He, Tingyan;
    • Zhao, Xiaodong;
    • Du, Hongqiang;
    • Candotti, Fabio
    Publication type:
    Article
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    News and Views on STAT3 Psychopathology.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.791201
    By:
    • Sadok, Sara H.;
    • Borges-Medeiros, Rayssa L.;
    • Macêdo, Paula V. B.;
    • de Oliveira, João Ricardo M.
    Publication type:
    Article
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    Human hyper-IgE syndrome: singular or plural?

    Published in:
    Mammalian Genome, 2018, v. 29, n. 7/8, p. 603, doi. 10.1007/s00335-018-9767-2
    By:
    • Zhang, Qian;
    • Boisson, Bertrand;
    • Béziat, Vivien;
    • Puel, Anne;
    • Casanova, Jean-Laurent
    Publication type:
    Article
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    Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.

    Published in:
    Clinical & Experimental Medicine, 2023, v. 23, n. 8, p. 5399, doi. 10.1007/s10238-023-01225-8
    By:
    • Bhattad, Sagar;
    • Mohite, Rachna S.;
    • Singh, Neha;
    • Kotecha, Udhaya;
    • Jhawar, Prerna;
    • Ramprakash, Stalin;
    • Commondoor, Raghuram;
    • Jayaram, Ananthvikas;
    • Rayabarapu, Pranavchand;
    • Kumar, Harish;
    • Unni, Jeeson;
    • Cyril, Gladys;
    • Kumar, Suresh;
    • Pachat, Divya;
    • Jakka, Shrinivas;
    • Makam, Adinarayana;
    • Porta, Fulvio;
    • Ginigeri, Chetan
    Publication type:
    Article
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    Severe dermatitis in a 24-day-old baby with hyper-IgE syndrome.

    Published in:
    Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2024, v. 73, n. 4, p. 259, doi. 10.37897/RJP.2024.3.5
    By:
    • Kiem Hao Tran;
    • Thinh Tran Cong Quoc;
    • Chi Nguyen Thi Diem;
    • Son Bui Binh Bao;
    • Phu Nguyen Manh;
    • Chi Phan Thi Bich;
    • Quan Ho Dang;
    • Tho Nguyen Huu;
    • Linh Hoang Mai;
    • Trinh Nguyen Thi Thao;
    • Nom Nguyen;
    • Loc Pham Kieu;
    • Huu Son Nguyen
    Publication type:
    Article
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    JOB SYNDROME/Hyper IgE Syndrome.

    Published in:
    European Journal of Cardiovascular Medicine, 2023, v. 13, n. 3, p. 811
    By:
    • Singh, Devina;
    • Kaur, Navneet
    Publication type:
    Article
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    Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

    Published in:
    Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01867-1
    By:
    • Lima de Souza, Suiane;
    • Asano, Takaki;
    • Glumoff, Virpi;
    • Keskitalo, Salla;
    • Pikkarainen, Keela;
    • Martelius, Timi;
    • Kaustio, Meri;
    • Saarela, Janna;
    • Kuismin, Outi;
    • Lappi-Blanco, Elisa;
    • Jartti, Airi;
    • Yannopoulos, Fredrik;
    • Tiitto, Leena;
    • Seppänen, Mikko R. J.;
    • Boisson, Bertrand;
    • Casanova, Jean-Laurent;
    • Varjosalo, Markku;
    • Hautala, Timo;
    • Chen, Zhi
    Publication type:
    Article
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    Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1882, doi. 10.1007/s10875-023-01554-z
    By:
    • Kasap, Nurhan;
    • Kara, Altan;
    • Celik, Velat;
    • Bilgic Eltan, Sevgi;
    • Akay Haci, Idil;
    • Kose, Hulya;
    • Aygun, Ayse;
    • Akkelle, Emre;
    • Yakici, Nalan;
    • Guner, Sukru Nail;
    • Reisli, Ismail;
    • Keles, Sevgi;
    • Cekic, Sukru;
    • Kilic, Sara Sebnem;
    • Karaca, Neslihan Edeer;
    • Gulez, Nesrin;
    • Genel, Ferah;
    • Ozen, Ahmet;
    • Yucelten, Ayse Deniz;
    • Karakoc-Aydiner, Elif
    Publication type:
    Article
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    Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.

    Published in:
    2023
    By:
    • Arlabosse, Tiphaine;
    • Materna, Marie;
    • Riccio, Orbicia;
    • Schnider, Caroline;
    • Angelini, Federica;
    • Perreau, Matthieu;
    • Rochat, Isabelle;
    • Superti-Furga, Andrea;
    • Campos-Xavier, Belinda;
    • Héritier, Sébastien;
    • Pereira, Anaïs;
    • Deswarte, Caroline;
    • Lévy, Romain;
    • Distefano, Marco;
    • Bustamante, Jacinta;
    • Roelens, Marie;
    • Borie, Raphaël;
    • Le Brun, Mathilde;
    • Crestani, Bruno;
    • Casanova, Jean‑Laurent
    Publication type:
    Correction Notice
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    New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 7, p. 1566, doi. 10.1007/s10875-023-01517-4
    By:
    • Arlabosse, Tiphaine;
    • Materna, Marie;
    • Riccio, Orbicia;
    • Schnider, Caroline;
    • Angelini, Federica;
    • Perreau, Matthieu;
    • Rochat, Isabelle;
    • Superti-Furga, Andrea;
    • Campos-Xavier, Belinda;
    • Héritier, Sébastien;
    • Pereira, Anaïs;
    • Deswarte, Caroline;
    • Lévy, Romain;
    • Distefano, Marco;
    • Bustamante, Jacinta;
    • Roelens, Marie;
    • Borie, Raphaël;
    • Le Brun, Mathilde;
    • Crestani, Bruno;
    • Casanova, Jean-Laurent
    Publication type:
    Article
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