Results 11 to 20 of about 501,602 (328)

A case report of Omenn syndrome in siblings

Journal of Education, Health and Sport, 2019
The article describes a case of Omenn syndrome in neonatal period. Omenn syndrome was diagnosed in two of three children of the same parents. Both of children had skin erythroderma since birth and eosynophilia in blood tests.
Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska   +3 more
doaj   +3 more sources

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists

International Journal of Neonatal Screening, 2021
During the ISNS meeting “Newborn Screening for SCID ‘State of the Art’” on 26 and 27 January 2021, the topic of case definitions and related issues were discussed.
Mirjam van der Burg
doaj   +1 more source

Current Approach to Primary Immunodeficiency Diseases

Southern Clinics of Istanbul Eurasia, 2019
Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are ...
Öner Özdemir
doaj   +1 more source

Disseminated Cryptosporidiosis in an Infant with Non-HIV Pediatric Immunodeficiency: First Case Report from Oman

Oman Medical Journal, 2021
Cryptosporidium is a rare but important pathogen, especially in children with immunodeficiency. Intestinal cryptosporidiosis is well described in immunocompetent and immunocompromised children, but respiratory and disseminated cryptosporidiosis in ...
Tariq AL Farsi, Sanjeewani Weerakoon, Jalila Mohsin, Hussein Al Mashayakhi, Khawater Ahmed, Amal Al Maani, Khuloud Aboqusida, Nashat Al Sukaiti   +7 more
doaj   +1 more source

Severe combined immunodeficiency—an update

Annals of the New York Academy of Sciences, 2015
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency.
CIRILLO, EMILIA, GIARDINO, GIULIANA, GALLO, VERA, D'ASSANTE, ROBERTA, GRASSO, FIORENTINO, Romano, Roberta, Di Lillo, Cristina, Galasso, Giovanni, PIGNATA, CLAUDIO   +8 more
openaire   +4 more sources

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

International Journal of Neonatal Screening, 2021
Although several countries have adopted severe combined immunodeficiency (SCID) into their newborn screening (NBS) program, other countries are still in the decision process of adding this disorder in their program and finding the appropriate screening ...
M. Elske van den Akker-van Marle, Maartje Blom, Mirjam van der Burg, Robbert G. M. Bredius, Catharina P. B. Van der Ploeg   +4 more
doaj   +1 more source

X-linked SCID with a rare mutation

Allergy, Asthma & Clinical Immunology, 2021
Background Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different ...
Fatemeh Sadat Mahdavi, Mohammad Keramatipour, Sarina Ansari, Samin Sharafian, Arezou Karamzade, Marzieh Tavakol   +5 more
doaj   +1 more source

Induced Pluripotent Stem Cell Meets Severe Combined Immunodeficiency [PDF]

Cell Journal, 2020
Severe combined immunodeficiency (SCID) is classified as a primary immunodeficiency, which is characterized by impaired T-lymphocytes differentiation. IL2RG, IL7Ralpha, JAK3, ADA, RAG1/RAG2, and DCLE1C (Artemis) are the most defective genes in SCID.
Reza Kouchaki, Bahareh Abd-Nikfarjam, Amirhosein Maali, Saeid Abroun, Farshad Foroughi, Sasan Ghaffari, Mehdi Azad   +6 more
doaj   +1 more source

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

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

Frontiers in Immunology, 2018
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu, Henry Y. Lu, Bradly M. Bauman, Swadhinya Arjunaraja, Batsukh Dorjbal, Joshua D. Milner, Andrew L. Snow, Stuart E. Turvey, Stuart E. Turvey   +8 more
doaj   +1 more source