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231225s2019 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2018.07.016
|2 doi
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|a pubmed24n0956.xml
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|a (DE-627)NLM287037630
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|e rakwb
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|a eng
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| 100 |
1 |
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|a Qureshi, Sonia
|e verfasserin
|4 aut
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|a Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan
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|c 2019
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|2 rdamedia
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|a ƒa Online-Ressource
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|2 rdacarrier
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|a Date Completed 28.10.2019
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|a Date Revised 28.10.2019
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2018 Elsevier Inc. All rights reserved.
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|a Autosomal Recessive Agammaglobulinemia (ARA) is an uncommon type of primary immunodeficiency characterized by mutations in genes responsible for early B cell differentiation and function. One such gene is the TCF3 gene, which encodes a transcription factor important for immunoglobulin gene expression. We present the case of a 9 year old girl with history of diarrhea and recurrent pneumonias. Laboratory investigation showed significantly reduced levels of immunoglobulins along with a significant fall in the number of CD19+ cells. Genetic analysis identified a TCF3 gene base deletion covering exons 5-11
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|a Case Reports
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|a Letter
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|a Research Support, N.I.H., Extramural
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|a Research Support, Non-U.S. Gov't
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|a Autosomal Recessive Agammaglobulinemia
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| 650 |
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|a Primary immunodeficiency
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| 650 |
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4 |
|a TCF3 gene
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| 650 |
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|a Basic Helix-Loop-Helix Transcription Factors
|2 NLM
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| 650 |
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|a TCF3 protein, human
|2 NLM
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| 700 |
1 |
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|a Sheikh, Muhammad Dawood Amir
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Qamar, Farah Naz
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 198(2019) vom: 15. Jan., Seite 100-101
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:198
|g year:2019
|g day:15
|g month:01
|g pages:100-101
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2018.07.016
|3 Volltext
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