CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report

BMC Pediatr. 2023 May 13;23(1):239. doi: 10.1186/s12887-023-04054-6.

Abstract

Background: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive.

Case presentation: We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after immunotherapy and allogeneic hematopoietic stem cell transplantation. In addition, four previously reported patients with CD40LG mutation with pulmonary alveolar proteinosis were also analyzed. All of these patients presented with early onset of pulmonary infections and a good response to immunotherapy. The structural model of CD40LG indicated that all mutations caused the X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis to be located within the tumor necrosis factor homology domain.

Conclusions: A case was presented, and the characteristics of four cases of CD40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis were summarized. The variant locations may explain the phenotypic heterogeneity of patients with the CD40LG mutation.

Keywords: CD40LG gene; Case report; Pediatrics; Pulmonary alveolar proteinosis; X-linked hyper-IgM syndrome.

Publication types

  • Case Reports

MeSH terms

  • CD40 Ligand / genetics
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome*
  • Hyper-IgM Immunodeficiency Syndrome, Type 1* / complications
  • Hyper-IgM Immunodeficiency Syndrome, Type 1* / diagnosis
  • Hyper-IgM Immunodeficiency Syndrome, Type 1* / genetics
  • Infant
  • Male
  • Mutation
  • Pulmonary Alveolar Proteinosis* / diagnosis
  • Pulmonary Alveolar Proteinosis* / genetics
  • Pulmonary Alveolar Proteinosis* / therapy

Substances

  • CD40 Ligand