Psychological Changes, Maladaptive Behaviors, Dysmorphology and Immunodeficiency in a Case of 3p14.1 – 3p12.3 Deletion, Including FOXP1 Functional Analysis
Location
Virtual
Presentation Date
26-10-2020 10:00 AM
End Date
30-10-2020 3:00 PM
Description
We present a patient that has a 3p12.3 – 3p14.1 deletion. This large of a deletion is significant for several reasons, chief among them is that there is a gene known as FOXP1 which codes for a transcription factor known as forkhead box protein 1 (FOXP1) that has been implicated in numerous basic science reports of delayed immunological development of B and T cells but fewer clinical reports have shown its role in psychological and behavioral development. The purpose of this manuscript will be to highlight the significant features of this patient which are clearly related to the large chromosomal deletion as a whole but to also detail which characteristics are associated with the deletion of FOXP1 such as the low memory B cell count, IFN-gamma expression in T cells, and FOXP1 expression in T cells. This report will summarize the effects of this deletion on the patient’s immune system, psychological and mental changes, and maladaptive behaviors. This will be the first detailed immunologic analysis of FOXP1 in a human with FOXP1 deletion.
Recommended Citation
Ahmed, Shees; Kamps, Jodi; Lacassie, Yves; Hu, Hui; and Wall, Luke A., "Psychological Changes, Maladaptive Behaviors, Dysmorphology and Immunodeficiency in a Case of 3p14.1 – 3p12.3 Deletion, Including FOXP1 Functional Analysis" (2020). Medical Student Research Poster Symposium. 3.
https://digitalscholar.lsuhsc.edu/sommrd/2020/virtual/3
Psychological Changes, Maladaptive Behaviors, Dysmorphology and Immunodeficiency in a Case of 3p14.1 – 3p12.3 Deletion, Including FOXP1 Functional Analysis
Virtual
We present a patient that has a 3p12.3 – 3p14.1 deletion. This large of a deletion is significant for several reasons, chief among them is that there is a gene known as FOXP1 which codes for a transcription factor known as forkhead box protein 1 (FOXP1) that has been implicated in numerous basic science reports of delayed immunological development of B and T cells but fewer clinical reports have shown its role in psychological and behavioral development. The purpose of this manuscript will be to highlight the significant features of this patient which are clearly related to the large chromosomal deletion as a whole but to also detail which characteristics are associated with the deletion of FOXP1 such as the low memory B cell count, IFN-gamma expression in T cells, and FOXP1 expression in T cells. This report will summarize the effects of this deletion on the patient’s immune system, psychological and mental changes, and maladaptive behaviors. This will be the first detailed immunologic analysis of FOXP1 in a human with FOXP1 deletion.
Comments
Mentor: Dr. Luke A. Wall (LSUHSC, Department of Pediatrics, Section of Allergy Immunology)