Abstract

<h3>Introduction</h3> PIK3CD-GOF is an inborn error of immunity (IEI) with variable phenotypic characteristics even with the same variant. Lymphoproliferation, autoimmunity, and dysgammaglobulinemia may lead to suspicion of the diagnosis. Here we present four unrelated Mexican patients from nonconsanguineous families with a diagnosis of PIK3CD-GOF: <h3>Case Description</h3> (1) A 2-year-old female with a history of very early-onset inflammatory bowel disease (VEO-IBD) at 8 months, late omphalorrhexis, hyper-IgA, hyperleukocytosis, and low B and NK cells. (2) A 12-year-old male with a family history of lymphoma. Sepsis due to Listeria, periodontal abscess, systemic lupus erythematosus, Sjögren's syndrome, bronchiectasis, hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, chronic EBV/CMV infection; leukocytosis and hyper-IgM. (3) A 2-year-old male with chronic rhinosinusitis, chronic suppurative otitis media, diarrhea; enlarged lymph nodes, splenomegaly, thrombocytopenia, low IgG and IgA and normal IgM with poor antibody response to pneumococcal vaccine. Hyper-IgM syndrome was suspected so he underwent successful stem cell transplantation. (4) An 11-year-old male child whose both parents were HIV+. Presented at 4-months with episodic fever and recurrent respiratory infections, bronchiectasis, mild mental retardation elevated IgM, low IgG, lymphopenia, and decreased lymphocyte proliferation. HIV were suspected in this patient. <h3>Discussion</h3> We identified heterozygous pathogenic variants related to PIK3CD: 3 of them in exon 24 (p.Glu1021Lys); and a novel variant in exon 7 (p.Ile262Val). PIK3CD-GOF is a combined immunodeficiency disorder (CID) with variable phenotype characteristics even with the same variant. Lymphoproliferation, autoimmunity, and dysgammaglobulinemia may raise suspicion. By behaving like a great simulator, genetic diagnosis is necessary to identify the specific pathogenic variant.

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