X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG
- PDF / 367,053 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 74 Downloads / 152 Views
BRIEF REPORT
X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG gene Tian-Jiao Wang 1 & Li-Fang Wu 2 & Junguo Chen 1 & Wen Zhu 1 & Hua Wang 1 & Xiao-Lin Liu 1 & Yi-Qun Teng 1
# Springer Science+Business Media, LLC, part of Springer Nature 2019
Introduction 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.
Case presentation A 5-month-old boy was admitted to Jiaxing Second Hospital, Zhejiang, China, on March 29, 2018, after coughing for
* Yi-Qun Teng [email protected] 1
Department of Pediatrics, The Second Affiliated Hospital of Jiaxing University, Jiaxing 314000, Zhejiang, China
2
Department of Pediatrics, Pinghu Maternal and Child Health Center, Jiaxing, Zhejiang, China
3 weeks and difficulty breathing. The child had a 5-year old brother with a history of asthma, and his father had a history of allergic rhinitis. The boy did not show abnormalities when he was born. His temperature was 36.9 °C and pulse was 150/ min; he took 60 breaths per minute; his weight was 10 kg; and his SPO2 level was 84%. The patient was irritable and showed mild three-concave sign. The patient also had mild cyanosis around the mouth and pharyngeal congestion. Moist rales were not heard. His heart rhythm was normal and no obvious heart murmur was detected. His abdomen was slightly bulging and liver and spleen were not felt under the ribs. Bowel sounds could be heard. CRT was 3 s. In a routine blood examination, his white blood cell level was 5.85 × 109/L, neutrophil percentage was 14.7%, hemoglobin was 123 g/L, platelet level was 347 × 109/L, C reaction protein was 0.66 mg/L, ESR was 2.30 mm/h, and procalcitonin was 0.5 ng/mL. In a blood gas analysis, we found his blood pH to be 7.32, pCO2 was 45.3 mmHg, and pO2 was 36 mmHg. In terms of liver function, his aspartate aminotransferase level was 41.7 U/L, alanine aminotransferase was 45.5 U/L, and alkaline phosphatase was 141 U/L. His immune in
Data Loading...
