98 citations
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March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
2 citations
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July 2022 in “Pediatric dermatology” This case report highlights that a restrictive rice milk diet in a young child led to kwashiorkor with severe malnutrition, skin changes, and developmental regression, which improved with a protein-rich therapeutic diet.
1 citations
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May 2023 in “Journal of neuroendocrinology” This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.
December 2025 in “Asthma Allergy Immunology” This study found that among pediatric patients with inborn errors of immunity, severe COVID-19 was linked to chronic lung disease, hypogammaglobulinemia, and musculoskeletal abnormalities, with chronic pulmonary illness being a major risk factor, while long-term effects included fatigue, hair loss, and red eye.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.