K Calvo Campoverde1, E Gean2, M Piquer Gibert3, L Martinez Valdez1, A Deyà-Martínez3, M Rojas Volquez1, A Esteve-Sole3, M Juan4, A M Plaza3, L Alsina5. 1. Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain. 2. Clinical Genetics Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain. 3. Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain. 4. Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Immunology Department-CDB, Hospital Clinic-IDIBAPS, Barcelona, Spain. 5. Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain. Electronic address: lalsina@hsjdbcn.org.
Abstract
BACKGROUND: Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form of PID, of which common variable immunodeficiency (CVID) is the most frequent symptomatic form. CVID is usually characterised by hypogammaglobulinaemia with poor antibody specificity, and an increased susceptibility to infections, autoimmunity and lymphoproliferation. Fewer than 10% of CVID patients have a known monogenic basis. Several chromosomal abnormalities (chromosome 18q-syndrome, monosomy 22, trisomy 8 and trisomy 21) are currently identified as causes of hypogammaglobulinaemia, and can manifest with recurrent infections and mimic CVID. METHODS: Review of clinical charts and laboratory results of paediatric patients followed in the outpatient clinic of PID with a diagnosis of genetic disease and humoral immunodeficiency. RESULTS: Three patients with different genetic diseases (19p13.3 deletion, a ring 18 chromosome and Kabuki syndrome), were identified. During follow-up, they developed signs and symptoms suggestive of humoral deficiency mimicking CVID, despite which immunoglobulin levels were quantified with considerable delay with respect to symptoms onset, and specific management was subsequently delayed. CONCLUSIONS: Patients with genetic abnormalities and recurrent infections should be evaluated for hypogammaglobulinaemia. An early diagnosis of humoral deficiency can allow treatment optimisation to prevent complications and sequelae.
BACKGROUND:Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form of PID, of which common variable immunodeficiency (CVID) is the most frequent symptomatic form. CVID is usually characterised by hypogammaglobulinaemia with poor antibody specificity, and an increased susceptibility to infections, autoimmunity and lymphoproliferation. Fewer than 10% of CVIDpatients have a known monogenic basis. Several chromosomal abnormalities (chromosome 18q-syndrome, monosomy 22, trisomy 8 and trisomy 21) are currently identified as causes of hypogammaglobulinaemia, and can manifest with recurrent infections and mimic CVID. METHODS: Review of clinical charts and laboratory results of paediatric patients followed in the outpatient clinic of PID with a diagnosis of genetic disease and humoral immunodeficiency. RESULTS: Three patients with different genetic diseases (19p13.3 deletion, a ring 18 chromosome and Kabuki syndrome), were identified. During follow-up, they developed signs and symptoms suggestive of humoral deficiency mimicking CVID, despite which immunoglobulin levels were quantified with considerable delay with respect to symptoms onset, and specific management was subsequently delayed. CONCLUSIONS:Patients with genetic abnormalities and recurrent infections should be evaluated for hypogammaglobulinaemia. An early diagnosis of humoral deficiency can allow treatment optimisation to prevent complications and sequelae.
Authors: Anna Hogendorf; Maciej Zieliński; Maria Constantinou; Robert Śmigiel; Jolanta Wierzba; Krystyna Wyka; Anna Wędrychowicz; Anna Jakubiuk-Tomaszuk; Edyta Budzynska; Malgorzata Piotrowicz; Beata S Lipska-Ziętkiewicz; Ewa Kaczorowska; Agata Cieślikowska; Anna Kutkowska-Kaźmierczak; Jolanta Fijak-Moskal; Monika Kugaudo; Małgorzata Kosińska-Urbańska; Agnieszka Szadkowska; Maciej Borowiec; Maciej Niedźwiecki; Piotr Trzonkowski; Wojciech Młynarski Journal: Front Immunol Date: 2021-11-17 Impact factor: 7.561