Pitfalls of genetic testing in a patient with IKBKG deficiency
Ann Allergy Asthma Immunol
.
2024 Oct;133(4):481-483.
doi: 10.1016/j.anai.2024.06.018.
Epub 2024 Jun 17.
Authors
Gonench Kilich
1
,
Srushti Patel
1
,
Kelly Hassey
1
,
Tamar Weinberger
2
,
Kathleen E Sullivan
3
Affiliations
1
Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
2
Division of Allergy Immunology, Hackensack University Medical Center, Hackensack, New Jersey.
3
Division of Allergy Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address: sullivank@chop.edu.
PMID:
38897406
PMCID:
PMC11410526
(available on
2025-10-01
)
DOI:
10.1016/j.anai.2024.06.018
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Female
Genetic Testing*
Humans
I-kappa B Kinase* / deficiency
I-kappa B Kinase* / genetics
Male
Mutation
Substances
I-kappa B Kinase
IKBKG protein, human
Grants and funding
U01 HG010219/HG/NHGRI NIH HHS/United States
U01 NS134352/NS/NINDS NIH HHS/United States