From Agammaglobulinemia to Neutropenia: The TCF-3 Has Different Clinical Presentations
Year: 2025
Type: article
Study design: Case Report
Abstract: Agammaglobulinemia is caused by genetic disorders affecting B cell development and is assumed to be autosomal recessive in up to 15%. Autosomal recessive agammaglobulinemia (ARA) is a condition that causes immunodeficiency, and it can lead to severe complications such as otitis, sinusitis, and pneumonia. Genetic mutations include μ heavy chain, λ5, Igα, Igβ, BLNK, PIK3R1, and TCF3. There are several genes, including μ heavy chain, λ5, Igα, Igβ, BLNK, PIK3R1, and TCF3, that have been associated with ARA. TCF-3 is responsible for the development of T and B cells. This report describes four cases, one of which was agammaglobulinemia, followed by two cases of Immunoglobulin (Ig) subgroup deficiency, one of neutropenia, and one of hypogammaglobulinemia. This report expands the spectrum of TCF3 deficiency types and highlights the crucial role of this transcription factor in B-lymphocyte differentiation. Table 1. The clinical and immunologic parameters of the patients. Patient1 Patient2 Patient3 Patient4 Age/ gender 8/M 3/M 5/M 26/M Clinical findings Recurrent bronchiolitis Enterovirus encephalitis Recurrent upper respiratory tract infections, peritonsillar abscess Recurrent otitis media and pneumonia, hearing loss Facial dsymorfism Failure to thrive Diagnosis at admission THI Agammaglobulinemia Neutropenia Ig subgroup deficiency Current diagnosis Ig subgroup deficiency Agammaglobulinemia Hypogammaglobulinemia Ig subgroup deficiency Mutation TCF- 3 p.Pro177Leu (c.530C>T) heterozygous TCF-3 p.Ala161Val (c.482C>T) heterozygous TCF-3 C.1939C>A p.(pro647Thr) heterozygous TCF-3 c.1813+8C>T (rs993094051) heterozygous Immunologic parameters ANS × 10 9 cells/L 3240 5660 62 3290 ALS× 10 9 cells/L 3780 2010 2850 2730 IgG(mg/dl) 304 145< 924 690 IgA(mg/dl) 81 6.7< 33 110 IgM(mg/dl) 105 18< 113 113 Ig Subgroups (mg/dl) IgG1:238 N/A N/A IgG1 483 IgG2:255 IgG2 166 IgG3:16.7 IgG3 36.7 CD3 × 10 9 cells/L 2683 1440 1995 1701 CD4 × 10 9 cells/L 1738 274 769 1107 CD8 × 10 9 cells/L 793 1080 1254 459 CD19 × 10 9 cells/L 756 44 133 351 CD3-CD16CD56+NK cells × 10 9 cells/L 185 880 684 459 Switched memory BCD19-IGgM-IgD+CD27 × 10 9 cells/L 18.9 0 28 21.6 Vaccine response positive positive positive positive
Source: Journal of Human Immunity
Authors: Hulya Kose, Sara Kilic
Institution: Bursa Uludağ Üni̇versi̇tesi̇
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409786184