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CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
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CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
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Journal Article
CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
2023
Overview
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.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Disease
/ Dyspnea
/ 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
/ Lavage
/ Male
/ Medicine
/ Mutation
/ Patients
/ Pulmonary alveolar proteinosis
/ Pulmonary Alveolar Proteinosis - diagnosis
/ Pulmonary Alveolar Proteinosis - genetics
