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
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-024-01751-4

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 with 18q deletion syndrome, who was being managed for severe motor and intellectual disabilities at the Yamabiko Medical Welfare Center for 26 years. Although the patient had few infections, he developed Pneumocystis pneumonia at the age of 28. Patient 2, a 48-year-old female with intellectual disability and congenital malformations, was referred to Tokyo Medical and Dental University Hospital with abnormal bilateral lung shadows detected on her chest radiography. Computed tomography showed multiple lymphadenopathies and pneumonia. A lymph node biopsy of the inguinal region revealed granulomatous lymphadenitis, and a chromosomal examination revealed 18q deletion. Array-based genomic hybridization analysis revealed deletion at 18q21.32-q22.3 for patient 1 and at 18q21.33-qter for patient 2. Immune status work-up of the two patients revealed panhypogammaglobulinemia, decreased number of memory B cells and naïve CD4 + and/or CD8 + cells, reduced response on the carboxyfluorescein diacetate succinimidyl ester T-cell division test, and low levels of T-cell receptor recombination excision circles and Ig κ-deleting recombination excision circles. Consequently, both patients were diagnosed with LOCID. Although patients with 18q deletion syndrome generally experience humoral immunodeficiency, the disease can be further complicated by cell-mediated immunodeficiency, causing combined immunodeficiency. Therefore, patients with 18q deletion syndrome should be regularly tested for cellular/humoral immunocompetence.