title: Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.
abstract: Severe congenital neutropenia (SCN) and CD40 ligand deficiency (CD40LD) are two primary immunodeficiency diseases caused by different underlying genetic defects. In this report, we present a case who clinically presented as a SCN patient, but subsequent mutation analysis of this patient was compatible with CD40LD. The patient is a 3-year-old boy, who was referred to our center because of pneumonia, oral and anal ulcers, and periodontitis. As severe consistent neutropenia and maturation arrest in the myeloid series were observed in the bone marrow, a diagnosis of SCN was made. However, no mutations were found in the ELA2 and HAX1 genes. As functional T cell defects were observed, we suspected CD40LD. DNA sequencing showed a 17-base pair deletion in the CD40L gene. Although the patient did not have a decreased serum level of IgA, and his serum IgM level was within the normal range, the diagnosis of CD40LD was confirmed, suggesting that CD40LD should be suspected in any male patient with recurrent infections and neutropenia.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Children's Medical Center, Tehran, Iran. rezaei_nima@hbi.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Asghar
authors.initials: A
authors.lastname: Ramyar
authors.forename: Qiang
authors.initials: Q
authors.lastname: Pan-Hammarstrom
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarstrom
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D023201:CD40 Ligand / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index
chemical_list: D023201:CD40 Ligand