Results 51 to 60 of about 167,593 (141)

Omenn syndrome: a case report and review of literature

Dermatologica Sinica, 2011
Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS), a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma ...
Chia-Chi Hsu, Julia Yu-Yun Lee, Sheau-Chiou Chao   +2 more
doaj   +1 more source

A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

Clinical Case Reports
LIG4 syndrome is an exceptionally rare primary immune deficiency. It is an autosomal recessive genetic disease, falling within the spectrum of genetic disorders characterized by impaired DNA damage response mechanisms.
Chenjia Jiang, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu   +4 more
doaj   +1 more source

Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency [PDF]

, 2016
Justin T. Wahlstrom, Kiran Patel, Erik Eckhert, Denice Kong, Biljana Horn, Morton J. Cowan, Christopher C. Dvorak   +6 more
openalex   +1 more source

A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems [PDF]

, 2018
Samin Sharafian, Hosein Alimadadi, Mohammad Shahrooei, Mohammad Gharagozlou, Asghar Aghamohammadi, Nima Parvaneh   +5 more
openalex   +1 more source

Long-Lasting Production of New T and B Cells and T-Cell Repertoire Diversity in Patients with Primary Immunodeficiency Who Had Undergone Stem Cell Transplantation: A Single-Centre Experience

Journal of Immunology Research, 2014
Levels of Kappa-deleting recombination excision circles (KRECs), T-cell receptor excision circles (TRECs), and T-cell repertoire diversity were evaluated in 1038 samples of 124 children with primary immunodeficiency, of whom 102 (54 with severe combined ...
Monica Valotti, Alessandra Sottini, Arnalda Lanfranchi, Federica Bolda, Federico Serana, Diego Bertoli, Viviana Giustini, Marion Vaglio Tessitore, Luigi Caimi, Luisa Imberti   +9 more
doaj   +1 more source

Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

Indian Pediatrics Case Reports
Background: Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE.
Ananyan Sampath, Hemant Yadav, Sanjuna Juluri, Girish Chandra Bhat, Yogendra Singh Yadav   +4 more
doaj   +1 more source

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B [PDF]

, 2016
Divya Punwani, Yong Zhang, Jason Yu, Morton J. Cowan, Sadhna Rana, Antonia Kwan, Aashish N. Adhikari, Carlos O. Lizama, Bryce A. Mendelsohn, Shawn P. Fahl, Ajithavalli Chellappan, Rajgopal Srinivasan, Steven E. Brenner, David L. Wiest, Jennifer M. Puck   +14 more
openalex   +1 more source

P83: COMBINED IMMUNODEFICIENCY AND IMPAIRED PI3K SIGNALING IN A PATIENT WITH BIALLELIC LCP2 VARIANTS [PDF]

, 2022
Ke Li Chow, J O'donnell, Roberta Hager, Ignatius Chua, Guy Gavagna, Stephen M. Mahler, Stuart Turville, Anthony D. Kelleher, Hari Nair   +8 more
openalex   +1 more source

SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease [PDF]

, 2021
Bandar Al‐Saud, Khaled M. Hazzazi, Reem Mohammed, Alaa Al Najjar, Tariq Al Hazmi, Dorota Monies, Fowzan S. Alkuraya   +6 more
openalex   +1 more source

Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1

, 2017
Craig D. Platt, Ari J. Fried, Rodrigo Hoyos‐Bachiloglu, G. Naheed Usmani, Birgitta Schmidt, Jennifer Whangbo, Roberto Chiarle, Janet Chou, Raif S. Geha   +8 more
openalex   +2 more sources