18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.
Pneumocystis pneumonia
18q deletion syndrome
Array-based comparative genomic hybridization
Common variable immunodeficiency
Late-onset combined immunodeficiency
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
19 Jun 2024
19 Jun 2024
Historique:
received:
09
03
2024
accepted:
07
06
2024
medline:
19
6
2024
pubmed:
19
6
2024
entrez:
19
6
2024
Statut:
epublish
Résumé
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
Identifiants
pubmed: 38896123
doi: 10.1007/s10875-024-01751-4
pii: 10.1007/s10875-024-01751-4
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
154Informations de copyright
© 2024. The Author(s).
Références
De Grouchy J, Royer P, Salmon C, Lamy M. Partial deletion of the long arms of the chromosome 18. Pathol Biol. 1964;12:579–82.
Hogendorf A, Zieliński M, Constantinou M, Smigiel R, Wierzba J, Wyka K, et al. Immune dysregulation in patients with chromosome 18q deletions-searching for putative loci for autoimmunity and immunodeficiency. Front Immunol. 2021;12:742834. https://doi.org/10.3389/fimmu.2021.742834 .
doi: 10.3389/fimmu.2021.742834
Cody JD, Heardy PL, Crandall AC, Carter EM, Li J, Hardies LJ, et al. Narrowing critical regions and determining penetrance for selected 18q- phenotypes. Am J Med Genet A. 2009;149A:1421–30. https://doi.org/10.1002/ajmg.a.32899 .
doi: 10.1002/ajmg.a.32899
Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martinez A, Rojas Volquez M, et al. Humoral deficiency in three paediatric patients with genetic diseases. Allergol Immunopathol (Madr). 2016;44:257–62. https://doi.org/10.1016/j.aller.2015.07.007 .
doi: 10.1016/j.aller.2015.07.007
Slyper AH, Pietryga D. Conversion of selective IgA deficiency to common variable immunodeficiency in an adolescent female with 18q deletion syndrome. Eur J Pediatr. 1997;156:155–6.
Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372:489–502. https://doi.org/10.1016/S0140-6736(08)61199-X .
doi: 10.1016/S0140-6736(08)61199-X
Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, et al. Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification, and management. J Investig Allergol Clin Immunol. 2020;30:14–34. https://doi.org/10.18176/jiaci.0388 .
doi: 10.18176/jiaci.0388
Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, et al. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol. 2013;131:1437–e405. https://doi.org/10.1016/j.jaci.2012.10.059 .
doi: 10.1016/j.jaci.2012.10.059
Malphettes M, Gérard L, Carmagnat M, Mouillot G, Vince N, Boutboul D, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49:1329–38. https://doi.org/10.1086/606059 .
doi: 10.1086/606059
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, et al. Consequences of chromosome18q deletions. Am J Med Genet C Semin Med Genet. 2015;169:265–80. https://doi.org/10.1002/ajmg.c.31446 .
doi: 10.1002/ajmg.c.31446
Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013;132:151–8. https://doi.org/10.1016/j.jaci.2013.04.047 .
doi: 10.1016/j.jaci.2013.04.047
Sobacchi C, Menale C, Villa A. The RANKL-RANK Axis: a bone to thymus round trip. Front Immunol. 2019;10:629. https://doi.org/10.3389/fimmu.2019.00629 .
doi: 10.3389/fimmu.2019.00629
Gao S, Alarcón C, Sapkota G, Rahman S, Chen PY, Goerner N, et al. Ubiquitin ligase Nedd4L targets activated Smad2/3 to limit TGF-beta signaling. Mol Cell. 2009;36:457–68. https://doi.org/10.1016/j.molcel.2009.09.043 .
doi: 10.1016/j.molcel.2009.09.043
Yoshimura A, Suzuki M, Sakaguchi R, Hanada T, Yasukawa H. SOCS, inflammation, and autoimmunity. Front Immunol. 2012;3:1–9. https://doi.org/10.3389/fimmu.2012.00020 .
doi: 10.3389/fimmu.2012.00020
Del Pino Molina L, Torres Canizales JM, Pernı́a O, Rodrı́guez Pena R, Ibanez de Caceres I, López Granados E. Defective Bcl-2 expression in memory B cells from common variable immunodeficiency patients. Clin Exp Immunol. 2021;203:341–50. https://doi.org/10.1111/cei.13522 .
doi: 10.1111/cei.13522
Altable M, de la Serna JM. Down’s syndrome and COVID-19: risk or protection factor against infection? A molecular and genetic approach. Neurol Sci. 2021;42:407–13. https://doi.org/10.1007/s10072-020-04880-x .
doi: 10.1007/s10072-020-04880-x
Aguilar C, Malphettes M, Donadieu J, Chandesris O, Coignard-Biehler H, Catherinot E, et al. Prevention of infections during primary immunodeficiency. Clin Infect Dis. 2014;15:59:1462–70. https://doi.org/10.1093/cid/ciu646 .
doi: 10.1093/cid/ciu646