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231226s2022 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2022.109067
|2 doi
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|a pubmed25n1142.xml
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|a (DE-627)NLM34271306X
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|a (NLM)35750252
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|a (PII)S1521-6616(22)00148-6
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Al-Tamemi, Salem
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency
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|c 2022
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 09.08.2022
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|a Date Revised 25.08.2022
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2022 Elsevier Inc. All rights reserved.
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|a BACKGROUND: Severe combined immunodeficiency (SCID) is characterized by severe, early-onset infection in infants. B-cell lymphoma/leukemia (BCL) 10 defects causing SCID have been reported previously in two patients
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|a MATERIAL & METHODS: A seven-month-old female infant was admitted with bilateral pneumonia requiring ventilatory support. She had a history of recurrent infections starting from four months of age. The patient was investigated for primary immunodeficiency
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|a RESULTS: Immunological investigations revealed hypogammaglobulinemia with normal CD4 and CD8 lymphocyte counts, while a lymphocyte proliferation assay showed absent response to phytohemagglutinin stimulation, thereby establishing the diagnosis of an atypical form of SCID. Genetic testing revealed a homozygous mutation in the BCL10 gene, with both parents demonstrating a heterozygous state (NM_003921.5:c.271A > C:p.[Thr91Pro]). The patient died before bone marrow transplantation due to severe disseminated adenovirus disease
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|a CONCLUSION: We report the first patient from the Middle East with a novel homozygous mutation in the BCL10 gene causing SCID
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|a Journal Article
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|a Adenovirus
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| 650 |
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4 |
|a BCL10
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| 650 |
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|a Hypogammaglobulinemia
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| 650 |
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4 |
|a Oman
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| 650 |
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4 |
|a Severe combined immunodeficiency
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| 650 |
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|a B-Cell CLL-Lymphoma 10 Protein
|2 NLM
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| 650 |
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|a BCL10 protein, human
|2 NLM
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| 700 |
1 |
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|a Alhinai, Zaid
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Rahbi, Najwa
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Abdawani, Raghad
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Yazidi, Laila
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Shekaili, Jalila
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Kindi, Mahmood
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Maawali, Almundher
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 241(2022) vom: 01. Aug., Seite 109067
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
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|g volume:241
|g year:2022
|g day:01
|g month:08
|g pages:109067
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|u http://dx.doi.org/10.1016/j.clim.2022.109067
|3 Volltext
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