Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0010200 (
cough
)
23,843
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Background:
Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to
Pneumocystis jirovecii
(
P. jirovecii
) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1).
Case Presentation:
Herein, we present a case of PAP secondary to
P. jirovecii
on an infant with HIGM1. He was admitted to our unit because of
cough
and tachypnea. Lung biopsy confirmed the diagnosis of PAP, whereas hexamine-silver staining of the bronchoalveolar lavage fluid identified
P. jirovecii
infection. No other probable cause of PAP was observed. Whole exome sequencing indicated a novel c.511dupA (p.I171N
*
30) hemizygous mutation in the
CD40 ligand
(
CD40LG
) gene. He was cured with bronchoalveolar lavage and compound sulfamethoxazole tablets.
Conclusions:
To our knowledge, this is the first reported case of
P. jirovecii
infection as a reversible cause of PAP in an infant with HIGM1.
...
PMID:Pulmonary Alveolar Proteinosis Due to
Pneumocystis carinii
in Type 1 Hyper-IgM Syndrome: A Case Report. 3259 90
