18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

• Published in: Journal of clinical immunology Vol. 44; no. 7; p. 154
• Main Authors: Hashiguchi, Sho, Tomomasa, Dan, Nishikawa, Takuro, Ishikawa, Shuji, Akaike, Harumi, Kobae, Hidehiko, Shirai, Tsuyoshi, Nagao, Toshikage, Noma, Kosuke, Okada, Satoshi, Kamuro, Kazuhiro, Okamoto, Yasuhiro, Kanegane, Hirokazu
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2024; Springer Nature B.V
• Subjects: Adult; Age of Onset; Biomedical and Life Sciences; Biomedicine; Biopsy; Carboxyfluorescein diacetate; CD4 antigen; CD8 antigen; Cell division; Chromosome 18; Chromosome Deletion; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosomes, Human, Pair 18 - genetics; Computed tomography; Congenital defects; Female; Genomic analysis; Humans; Hybridization analysis; Hypogammaglobulinemia; Immune system; Immunocompetence; Immunodeficiency; Immunoglobulins; Immunologic Deficiency Syndromes - complications; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Immunological memory; Immunology; Infectious Diseases; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - etiology; Intellectual Disability - genetics; Internal Medicine; Lymph nodes; Lymphocytes B; Lymphocytes T; Male; Medical Microbiology; Middle Aged; Patients; Pneumonia; Radiography; Recombination; Severe Combined Immunodeficiency - complications; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - genetics; T cell receptors; Common variable immunodeficiency; 18q deletion syndrome; pneumonia; Array-based comparative genomic hybridization; Late-onset combined immunodeficiency; Pneumocystis pneumonia

Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q deletion syndrome who presented with late-onset combined immune deficiency (LOCID), which has not been previously reported. Patient 1 was a 29-year-old male...