X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG gene

Excerpt

X-linked hyper-IgM syndrome (HIGM1) is a rare primary immunodeficiency syndrome caused by mutations in the CD40L gene. The major clinical feature of the disease is repeated opportunistic infections; however, in rare cases, presentation is with interstitial lung lesions complicated with liver injury. Herein, we present a case of a 5-month-old child presented with a prolonged cough with difficulty breathing. The clinical presentation of the child included progressive pulmonary interstitial changes and liver damage. Testing revealed a lack of IgA and a decrease in IgM level. Whole-exome sequencing revealed that there was a homozygous mutation in exon 5 of the CD40LG gene (c.685T>C, F229L). The child’s mother carried a heterozygous mutation at this locus. The child was diagnosed with HIGM1, and the mutation locus is chrX:135741473, a novel mutation site in CD40LG. The onset of this disease is occult, but it progresses rapidly. It is rare to report lung interstitial changes combined with liver damage. Gene testing is the gold standard for diagnosis. Hematopoietic stem cell transplantation is currently the most effective treatment. …