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

Overview

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.

publication date

  • May 13, 2023

Research

keywords

  • Hyper-IgM Immunodeficiency Syndrome
  • Hyper-IgM Immunodeficiency Syndrome, Type 1
  • Pulmonary Alveolar Proteinosis

Identity

PubMed Central ID

  • PMC10182603

Scopus Document Identifier

  • 85159741665

Digital Object Identifier (DOI)

  • 10.1182/blood-2003-12-4420

PubMed ID

  • 37173671

Additional Document Info

volume

  • 23

issue

  • 1