Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

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

doi:10.3389/fimmu.2023.1224603

Frontiers in Immunology (Aug 2023)

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

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

Affiliations

S. Ricci: Department of Health Sciences, University of Florence, Florence, Italy
S. Ricci: Immunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy
S. Abu-Rumeileh: Department of Health Sciences, University of Florence, Florence, Italy
N. Campagna: Department of Health Sciences, University of Florence, Florence, Italy
F. Barbati: Department of Health Sciences, University of Florence, Florence, Italy
S. Stagi: Department of Health Sciences, University of Florence, Florence, Italy
S. Stagi: Endocrinology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy
C. Canessa: Department of Health Sciences, University of Florence, Florence, Italy
C. Canessa: Immunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy
L. Lodi: Department of Health Sciences, University of Florence, Florence, Italy
L. Lodi: Immunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy
B. Palterer: Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
L. Maggi: Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
A. Matucci: Immunoallergology Unit, Careggi University Hospital, Florence, Italy
A. Vultaggio: Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
A. Vultaggio: Immunoallergology Unit, Careggi University Hospital, Florence, Italy
F. Annunziato: Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
F. Annunziato: Flow Cytometry Diagnostic Center and Immunotherapy, Careggi University Hospital, Florence, Italy
C. Azzari: Department of Health Sciences, University of Florence, Florence, Italy
C. Azzari: Immunology Division, Section of Pediatrics, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy

DOI: https://doi.org/10.3389/fimmu.2023.1224603
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Immunology

ISSN: 1664-3224 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Immunologic diseases. Allergy
Website: http://journal.frontiersin.org/journal/immunology

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