Ng, K.F.; Goenka, A.; Manyika, F.; Bernatoniene, J. The Multifaceted Syndromic Primary Immunodeficiencies in Children. J. Clin. Med.2023, 12, 4964.
Ng, K.F.; Goenka, A.; Manyika, F.; Bernatoniene, J. The Multifaceted Syndromic Primary Immunodeficiencies in Children. J. Clin. Med. 2023, 12, 4964.
Ng, K.F.; Goenka, A.; Manyika, F.; Bernatoniene, J. The Multifaceted Syndromic Primary Immunodeficiencies in Children. J. Clin. Med.2023, 12, 4964.
Ng, K.F.; Goenka, A.; Manyika, F.; Bernatoniene, J. The Multifaceted Syndromic Primary Immunodeficiencies in Children. J. Clin. Med. 2023, 12, 4964.
Abstract
Background: Disorders of immunity are poorly recognised in some rare multisystem genetic con-ditions. We aim to describe syndromic features and immunological defects in children with syn-dromic primary immunodeficiencies (sPIDs).
Methods: This is a retrospective descriptive study of children aged 0-18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom from January 2006 to September 2021.
Results: sPIDs were identified in 36 patients. Genetic diagnoses which are not commonly associ-ated with PIDs and not included in the International Union of Immunological Societies classifica-tion were present in 7/36 (19%): Trisomy 22, Arboleda-Tham syndrome, 2p16.3 deletion syn-drome, supernumerary ring chromosome 20 syndrome, Myhre syndrome, Noonan syndrome, trichothiodystrophy/Cockayne syndrome complex. Recurrent and/or severe infections were the commonest clinical features (n=33, 92%). Approximately half had combined immunodeficiency or antibody deficiency. Commonest extra-immunological manifestations include dysmorphism (72%), disorders of nervous (78%), musculoskeletal (69%), haematology/lymphatic (58%), and gastrointestinal, hepatic/pancreatic (58%) systems.
Conclusions: Patients with sPIDs often have multiorgan involvement and some are non-immunologically mediated. There should be low threshold to clinically assess and investi-gate for disorders of immunity in any patients with syndromic features especially when they pre-sent with recurrent/severe/opportunistic infections, features of immune dysregulation, autoin-flammation or lymphoproliferation.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
