Results 31 to 40 of about 4,110,972 (276)

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

Severe combined immunodeficiencies (SCID) [PDF]

Clinical and Experimental Immunology, 2000
SCID consists of a group of genetic disorders characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages, i.e. B or NK lymphocytes or more rarely of the myeloid lineage [1,2].
openaire   +2 more sources

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

Dental manifestations in severe combined immunodeficiency following bone marrow transplantation

, 2000
Severe combined immunodeficiency (SCID) is a rare primary immunodeficiency disorder with an estimated overall frequency of 1 in 75,000 live births. Bone marrow transplantation is the only curative treatment available.
Welbury RR, Bond E, Abinun M, Cole BOI
core   +5 more sources

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

Recurrent Chronic HEV in Severe Combined Immunodeficiency [PDF]

, 2021
Severe combined immunodeficiency (SCID) is a group of genetic disorders characterized by significant impairment of T cell differentiation, with or without abnormal B and NK cell differentiation.
Whyte, Andrew F., Dhanda, Ashwin, Moodley, Prebashan   +2 more
core   +1 more source

Neonatal screening for severe combined immunodeficiency in Brazil

Jornal de Pediatria (Versão em Português), 2016
Objective: To apply, in Brazil, the T‐cell receptor excision circles (TRECs) quantification technique using real‐time PCR in newborn screening for severe combined immunodeficiency (SCID) and assess the feasibility of implementing it on a large scale in ...
Marilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi, Beatriz Tavares Costa‐Carvalho, Antonio Condino‐Neto   +13 more
doaj   +5 more sources

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

Journal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka, Tummala Sujith Kumar, G V Basavaraj, Sagar Bhattad   +3 more
doaj   +1 more source

Diagnosis of severe combined immunodeficiency

Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications.
Gennery AR, Cant AJ
core   +5 more sources