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Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01776-9
By:
- Lei, Wei-Te;
- Lo, Yu-Fang;
- Tsumura, Miyuki;
- Ding, Jing-Ya;
- Lo, Chia-Chi;
- Lin, You-Ning;
- Wang, Chuang-Wei;
- Liu, Lu-Hang;
- Shih, Han-Po;
- Peng, Jhan-Jie;
- Wu, Tsai-Yi;
- Chan, Yu-Pei;
- Kang, Chen-Xuan;
- Wang, Shang-Yu;
- Kuo, Chen-Yen;
- Tu, Kun-Hua;
- Yeh, Chun-Fu;
- Hsieh, Ya-Ju;
- Asano, Takaki;
- Chung, Wen-Hung
Publication type:
Article
Severe Extrahematopoietic Manifestations in Complete STAT1 LOF after Successful Allogeneic HCT.
Published in:
2024
By:
- Frieß, Friederike;
- Flaig, Michael;
- Albert, Michael H.;
- Klein, Christoph;
- Hauck, Fabian
Publication type:
Letter
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection.
Published in:
2024
By:
- Sil, Archan;
- Basu, Suprit;
- Arora, Kanika;
- Khubchandani, Raju;
- Rawat, Amit;
- Suri, Deepti
Publication type:
Letter
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.
Published in:
2024
By:
- Mehta, Sarah S.;
- Sanosyan, Armen;
- Cooper, Megan A.;
- Bednarski, Jeffrey J.;
- Gooch, Catherine;
- Pala, Francesca;
- Amini, Kayla;
- Bosticardo, Marita;
- Notarangelo, Luigi D.;
- Kitcharoensakkul, Maleewan
Publication type:
Letter
Racial Disparities in the Diagnosis of Inborn Errors of Immunity.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01790-x
By:
- O’Connell, Patrick;
- Stewart, O’Jay;
- Bogunovic, Dusan
Publication type:
Article
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01788-5
By:
- Triaille, Clément;
- Rao, Neha Mohan;
- Rice, Gillian I.;
- Seabra, Luis;
- Sutherland, Fraser J. H.;
- Bondet, Vincent;
- Duffy, Darragh;
- Gennery, Andrew R.;
- Fournier, Benjamin;
- Bader-Meunier, Brigitte;
- Troedson, Christopher;
- Cleary, Gavin;
- Buso, Helena;
- Dalby-Payne, Jacqueline;
- Ranade, Prajakta;
- Jansen, Katrien;
- De Somer, Lien;
- Frémond, Marie-Louise;
- Chavan, Pallavi Pimpale;
- Wong, Melanie
Publication type:
Article
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01783-w
By:
- Shu, Zhou;
- Deng, Mengyue;
- Han, Tongxin;
- Mao, Huawei
Publication type:
Article
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01786-7
By:
- Berghuis, Dagmar;
- Mehyar, Lubna S.;
- Abu-Arja, Rolla;
- Albert, Michael H.;
- Barnum, Jessie L.;
- von Bernuth, Horst;
- Elfeky, Reem;
- Lewalle, Philippe;
- Laberko, Alexandra;
- Ghosh, Sujal;
- Slatter, Mary A.;
- Weemaes, Corry M. R.;
- Yesilipek, Akif;
- Sirait, Tiarlan;
- Neven, Bénédicte;
- Gennery, Andrew R.;
- Lankester, Arjan C.
Publication type:
Article
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01787-6
By:
- Vladyka, Ondřej;
- Zieg, Jakub;
- Pátek, Ondřej;
- Bloomfield, Markéta;
- Paračková, Zuzana;
- Šedivá, Anna;
- Klocperk, Adam
Publication type:
Article
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01769-8
By:
- Rubinstein, Arye;
- Mabudian, Mohsen;
- McNeil, Donald;
- Patel, Niraj C.;
- Wasserman, Richard L.;
- Gupta, Sudhir;
- Carrasco, Paz;
- Chen, Jie;
- Garcia, Enrique;
- Nagy, Andras;
- Yel, Leman
Publication type:
Article
Hypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01773-y
By:
- Nie, Yuxue;
- Zhang, Nianyi;
- Li, Jingna;
- Wu, Di;
- Yang, Yunjiao;
- Zhang, Li;
- Bai, Wei;
- Jiang, Nan;
- Qiao, Lin;
- Huang, Can;
- Zhou, Shuang;
- Tian, Xinping;
- Li, Mengtao;
- Zeng, Xiaofeng;
- Peng, Linyi;
- Zhang, Wen
Publication type:
Article
A Cross-Sectional Study of Health-Related Quality of Life in Patients with Predominantly Antibody Deficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01781-y
By:
- Elmoursi, Ahmed;
- Zhou, Baijun;
- Ong, Mei-Sing;
- Hong, Joseph S.;
- Pak, Andrew;
- Tandon, Megha;
- Sutherland, Natalia;
- DiGiacomo, Daniel V.;
- Farmer, Jocelyn R.;
- Barmettler, Sara
Publication type:
Article
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.
Published in:
2024
By:
- Ying, Wenjing;
- Long, Xin;
- Vandergriff, Travis;
- Karnati, Hemanth;
- Heberton, Meghan;
- Chen, Mingyi;
- Wang, Xiaochuan;
- Wysocki, Christian;
- Kong, Xiao-Fei
Publication type:
Letter
Interferon Alpha Therapy in MSMD.
Published in:
2024
By:
- Iyengar, Vaishnavi V.;
- Chougule, Akshaya;
- Gowri, Vijaya;
- Taur, Prasad;
- Bodhanwala, Minnie;
- Desai, Mukesh M.
Publication type:
Letter
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01777-8
By:
- Azizoglu, Zehra Busra;
- Babayeva, Royala;
- Haskologlu, Zehra Sule;
- Acar, Mustafa Burak;
- Ayaz-Guner, Serife;
- Okus, Fatma Zehra;
- Alsavaf, Mohammad Bilal;
- Can, Salim;
- Basaran, Kemal Erdem;
- Canatan, Mehmed Fatih;
- Ozcan, Alper;
- Erkmen, Hasret;
- Leblebici, Can Berk;
- Yilmaz, Ebru;
- Karakukcu, Musa;
- Kose, Mehmet;
- Canoz, Ozlem;
- Özen, Ahmet;
- Karakoc-Aydiner, Elif;
- Ceylaner, Serdar
Publication type:
Article
The Pathogenic Role of Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Nocardiosis with the Central Nervous System Involvement.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01775-w
By:
- Lo, Yu-Fang;
- Wang, Shang-Yu;
- Wu, Yi-Hui;
- Ho, Mao-Wang;
- Yeh, Chun-Fu;
- Wu, Tsai-Yi;
- Peng, Jhan-Jie;
- Lin, You-Ning;
- Ding, Jing-Ya;
- Shih, Han-Po;
- Lo, Chia-Chi;
- Chan, Yu-Pei;
- Rau, Cheng-Shyuan;
- Kuo, Chen-Yen;
- Tu, Kun-Hua;
- Lei, Wei-Te;
- Chen, Yi-Chun;
- Ku, Cheng-Lung
Publication type:
Article
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Published in:
2024
By:
- Utsumi, Takanori;
- Tsumura, Miyuki;
- Yashiro, Masato;
- Kato, Zenichiro;
- Noma, Kosuke;
- Sakura, Fumiaki;
- Kagawa, Reiko;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Ohnishi, Hidenori;
- Cunningham-Rundles, Charlotte;
- Arkwright, Peter D.;
- Kobayashi, Masao;
- Kanegane, Hirokazu;
- Bogunovic, Dusan;
- Boisson, Bertrand;
- Casanova, Jean-Laurent;
- Asano, Takaki;
- Okada, Satoshi
Publication type:
Correction Notice
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease.
Published in:
2024
By:
- Chester, Jennifer G.;
- Estrella, Alani M.;
- Kuhns, Douglas B.;
- Garcia, Christine K.;
- Fuleihan, Ramsay L.
Publication type:
Letter
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01778-7
By:
- León-Lara, Ximena;
- Pérez-Blanco, Uriel;
- Yamazaki-Nakashimada, Marco A;
- Bustamante-Ogando, Juan Carlos;
- Aguilar-Gómez, Nancy;
- Cristerna-Tarrasa, Hernán;
- Staines-Boone, Aidé-Tamara;
- Saucedo-Ramírez, Omar J;
- Fregoso-Zuñiga, Eunice;
- Macías-Robles, Ana-Paola;
- Canseco-Raymundo, María R;
- Venancio-Hernández, Marco;
- Moctezuma-Trejo, Cristina;
- Gámez-González, Berenise;
- Zarate-Hernández, Carmen;
- Ramírez-Rivera, Roselia;
- Scheffler-Mendoza, Selma;
- Jiménez-Polvo, Nancy;
- Hernández-Nieto, Leticia;
- Carmona-Vargas, Jocelyn
Publication type:
Article
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01774-x
By:
- Huynh, Aimee;
- Gray, Paul E;
- Sullivan, Anna;
- Mackie, Joseph;
- Guerin, Antoine;
- Rao, Geetha;
- Pathmanandavel, Karrnan;
- Mina, Erika Della;
- Hollway, Georgina;
- Hobbs, Matthew;
- Enthoven, Karen;
- O'Young, Patrick;
- McManus, Sam;
- Wainwright, Luke H.;
- Higgins, Megan;
- Noon, Fallon;
- Wong, Melanie;
- Bastard, Paul;
- Zhang, Qian;
- Casanova, Jean-Laurent
Publication type:
Article
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01771-0
By:
- Yalcin Gungoren, Ezgi;
- Yorgun Altunbas, Melek;
- Dikici, Ummugulsum;
- Meric, Zeynep;
- Eser Simsek, Isil;
- Kiykim, Ayca;
- Can, Salim;
- Karabiber, Esra;
- Yakici, Nalan;
- Orhan, Fazil;
- Cokugras, Haluk;
- Aydogan, Metin;
- Ozdemir, Oner;
- Bilgic Eltan, Sevgi;
- Baris, Safa;
- Ozen, Ahmet;
- Karakoc-Aydiner, Elif
Publication type:
Article

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