Search Results - "primary immunodeficiencies"

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report by Abdullah Alakeel, Khalid Nabil Nagshabandi, Abdulaziz Alsalhi

Connect to this object online.

Epidemiology Insights

DOAB: download the publication
DOAB: description of the publication

Do you know this syndrome? by Alexandre Moretti de Lima, Vitor Arantes Sperandio, Sheila Pereira da Rocha, Beatriz Medeiros de Ribeiro, Carmelia Matos Santiago Reis

Connect to this object online.

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside by Ottavia Maria Delmonte, Riccardo Castagnoli, Riccardo Castagnoli, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo

Connect to this object online.

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy by R Rajyalakshmi, R. N. B. Chakrapani

Connect to this object online.

Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma by Sarah E. Henrickson, Sarah E. Henrickson, Joseph G. Dolan, Lisa R. Forbes, Lisa R. Forbes, Alexander Vargas-Hernández, Alexander Vargas-Hernández, Shiho Nishimura, Satoshi Okada, Leslie S. Kersun, Garrett M. Brodeur, Jennifer R. Heimall

Connect to this object online.

A case of Wiskott - Aldrich syndrome in an infant by E. V. Churyukina, E. V. Koreeva, O. S. Selezneva

Connect to this object online.

Wiskott-Aldrich Syndrome (WAS) and Dedicator of Cytokinesis 8- (DOCK8) Deficiency by Michael H. Albert, Alexandra F. Freeman

Connect to this object online.

Disseminated BCGosis complicated by robust immune reconstitution in a child with severe combined immunodeficiency during transplant: A case report by N.S. Thillai Arunachalam, Dhaarani Jayaraman, Adarsh Kancharla, T.K. Shruthi, Swati Kumari, Rajeev Pulimi, Julius Xavier Scott

Connect to this object online.

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report by Jiamei Tang, Xiaoying Zhou, Lan Wang, Guorui Hu, Bixia Zheng, Chunli Wang, Yan Lu, Yu Jin, Hongmei Guo, Zhifeng Liu

Connect to this object online.

Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report by Haixia Huang, Ke Bai, Yueqiang Fu, Jin Yan, Jing Li

Connect to this object online.

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 (STAT 1) mutation in an indian patient - A case report by Abyramy Balasundaram, Renu George, Aby Abraham, Joy S Michael

Connect to this object online.

Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare... by Matteo Chinello, Margherita Mauro, Gaetano Cantalupo, Giacomo Talenti, Sara Mariotto, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Daniela Di Carlo, Federica Barzaghi, Simone Cesaro

Connect to this object online.

Nijmegen breakage syndrome - NBS: а rare clinical case in Kazakhstan by Elena F. Kovzel, Bayan Gani, Adil A. Zhamankulov, Assel K. Baigojayeva

Connect to this object online.

Factors of immunodeficiency in children with trisomy 21 (Down syndrome): a modern paradigm of immune and non-immune mechanisms by O.L. Logvinova

Connect to this object online.

A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis by Jing-jing Lin, Xu-hui Liu, Lu Xia, Yan-ling Feng, Xiu-hong Xi, Shui-hua Lu

Connect to this object online.

Update on Hyper IgE syndrome (HIES) by Javad Ghaffari, Hamid Ahanchian, Fariborz Zandieh

Connect to this object online.

A challenging case of recalcitrant Hyper-IgE syndrome successfully treated with omalizumab by Rashid Shahid, Swetalina Pradhan, Suvesh Singh

Connect to this object online.

Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome on the Basis of Selective IgA Deficiency by Seda Altiner, Alper Ekinci

Connect to this object online.

A case of netherton syndrome with novel mutation in SPINK5 gene expressing incomplete phenotype by Tejas D Patel, Jigna Krunal Padhiyar, Nayan H Patel, Nishi S Trivedi

Connect to this object online.