Disease: Immunodeficiency without anhidrotic ectodermal dysplasia
- A heterozygous N-terminal truncation mutation of <em>NFKBIA</em> results in an impaired NF-κB dependent inflammatory response
- A Novel De Novo <em>NFKBIA</em> Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
- An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with <em>Pneumocystis</em> pneumonia: A case report
- Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency
- Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
- Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair
- Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis
- Epstein-Barr virus-positive diffuse large B-cell lymphomas of the elderly
- Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
- Lung transplantation for non-cystic fibrosis bronchiectasis
- Management of COVID-19 pneumonia in a child with NEMO deficiency
- Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
- Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review
- Skin manifestations of inborn errors of NF-κB
- Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency