Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1224603/full |
| _version_ | 1797755723055104000 |
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| author | S. Ricci S. Ricci S. Abu-Rumeileh N. Campagna F. Barbati S. Stagi S. Stagi C. Canessa C. Canessa L. Lodi L. Lodi B. Palterer L. Maggi A. Matucci A. Vultaggio A. Vultaggio F. Annunziato F. Annunziato C. Azzari C. Azzari |
| author_facet | S. Ricci S. Ricci S. Abu-Rumeileh N. Campagna F. Barbati S. Stagi S. Stagi C. Canessa C. Canessa L. Lodi L. Lodi B. Palterer L. Maggi A. Matucci A. Vultaggio A. Vultaggio F. Annunziato F. Annunziato C. Azzari C. Azzari |
| author_sort | S. Ricci |
| collection | DOAJ |
| description | We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient’s mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH – IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient. |
| first_indexed | 2024-03-12T17:50:18Z |
| format | Article |
| id | doaj.art-25d1895af70a454585a0878b350e0747 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-03-12T17:50:18Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-25d1895af70a454585a0878b350e07472023-08-03T08:09:35ZengFrontiers Media S.A.Frontiers in Immunology1664-32242023-08-011410.3389/fimmu.2023.12246031224603Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short statureS. Ricci0S. Ricci1S. Abu-Rumeileh2N. Campagna3F. Barbati4S. Stagi5S. Stagi6C. Canessa7C. Canessa8L. Lodi9L. Lodi10B. Palterer11L. Maggi12A. Matucci13A. Vultaggio14A. Vultaggio15F. Annunziato16F. Annunziato17C. Azzari18C. Azzari19Department of Health Sciences, University of Florence, Florence, ItalyImmunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyEndocrinology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyImmunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyImmunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, ItalyDepartment of Experimental and Clinical Medicine, University of Florence, Florence, ItalyDepartment of Experimental and Clinical Medicine, University of Florence, Florence, ItalyImmunoallergology Unit, Careggi University Hospital, Florence, ItalyDepartment of Experimental and Clinical Medicine, University of Florence, Florence, ItalyImmunoallergology Unit, Careggi University Hospital, Florence, ItalyDepartment of Experimental and Clinical Medicine, University of Florence, Florence, ItalyFlow Cytometry Diagnostic Center and Immunotherapy, Careggi University Hospital, Florence, ItalyDepartment of Health Sciences, University of Florence, Florence, ItalyImmunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, ItalyWe report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient’s mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH – IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.https://www.frontiersin.org/articles/10.3389/fimmu.2023.1224603/fullNFKB1whole exome sequencingcommon variable immunodeficiencyshort staturegrowth hormone |
| spellingShingle | S. Ricci S. Ricci S. Abu-Rumeileh N. Campagna F. Barbati S. Stagi S. Stagi C. Canessa C. Canessa L. Lodi L. Lodi B. Palterer L. Maggi A. Matucci A. Vultaggio A. Vultaggio F. Annunziato F. Annunziato C. Azzari C. Azzari Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature Frontiers in Immunology NFKB1 whole exome sequencing common variable immunodeficiency short stature growth hormone |
| title | Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| title_full | Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| title_fullStr | Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| title_full_unstemmed | Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| title_short | Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| title_sort | case report a child with nfkb1 haploinsufficiency explaining the linkage between immunodeficiency and short stature |
| topic | NFKB1 whole exome sequencing common variable immunodeficiency short stature growth hormone |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1224603/full |
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