Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease

J Allergy Clin Immunol. 2015 Jun;135(6):1641-3. doi: 10.1016/j.jaci.2014.11.038. Epub 2015 Jan 17.

Affiliations

¹ Pediatrics Clinic and Institute for Molecular Medicine "Angelo Nocivelli," Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
² Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
³ Pediatrics Clinic and Institute for Molecular Medicine "Angelo Nocivelli," Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
⁴ Pediatrics Clinic, Maternal-Infantile Department, University of Bologna, Cesena, Italy.

PMID: 25605273
DOI: 10.1016/j.jaci.2014.11.038

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adrenocorticotropic Hormone / deficiency*
Adrenocorticotropic Hormone / genetics
Adrenocorticotropic Hormone / immunology
Adult
Alopecia / complications
Alopecia / genetics
Alopecia / immunology*
Alopecia / pathology
B-Lymphocytes / immunology
B-Lymphocytes / pathology
Base Sequence
Common Variable Immunodeficiency / complications
Common Variable Immunodeficiency / genetics
Common Variable Immunodeficiency / immunology*
Common Variable Immunodeficiency / pathology
Cytotoxicity, Immunologic
Endocrine System Diseases / complications
Endocrine System Diseases / genetics
Endocrine System Diseases / immunology*
Endocrine System Diseases / pathology
Gene Expression
Genetic Diseases, Inborn / complications
Genetic Diseases, Inborn / genetics
Genetic Diseases, Inborn / immunology*
Genetic Diseases, Inborn / pathology
Heterozygote
Humans
Hypoglycemia / complications
Hypoglycemia / genetics
Hypoglycemia / immunology*
Hypoglycemia / pathology
Killer Cells, Natural / immunology*
Killer Cells, Natural / pathology
Male
Molecular Sequence Data
Mutation*
NF-kappa B p52 Subunit / genetics
NF-kappa B p52 Subunit / immunology*
Respiratory Tract Infections / complications
Respiratory Tract Infections / genetics
Respiratory Tract Infections / immunology*
Respiratory Tract Infections / pathology
T-Lymphocytes / immunology
T-Lymphocytes / pathology

Substances

NF-kappa B p52 Subunit
NFKB2 protein, human
Adrenocorticotropic Hormone

Supplementary concepts

ACTH Deficiency, Isolated