IntroductionPulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfacta... more IntroductionPulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. PAP has been reported to be associated with a large number of clinical conditions and diseases. Whole lung lavages (WLLs) can be helpful to stabilize the clinical course of PAP until the underlying condition is identified, which may enable more specific treatment. Recently, heterozygous OAS1 gain‐of‐function variants were described as cause in patients with infantile‐onset PAP combined with hypogammaglobulinemia.Case presentationAt age 4 months, a female infant born to term was diagnosed with hypogammaglobulinemia and treated with monthly immunoglobulin injections. At age 15 months, the girl needed supplemental oxygen at night, and at age 18 months, also during the day. At age 2 years, PAP of unknown etiology was diagnosed by computed tomography scan and open lung biopsy. Subsequently, monthly WLLs were started, which stabilized the clinical course for over 2 ye...
OAS1-GOF/RNase L–mediated RNA cleavage caused an interferon-induced hyperinflammatory monocyte an... more OAS1-GOF/RNase L–mediated RNA cleavage caused an interferon-induced hyperinflammatory monocyte and B cell immunodeficiency.
ABSTRACT A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in st... more ABSTRACT A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.
IntroductionPulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfacta... more IntroductionPulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. PAP has been reported to be associated with a large number of clinical conditions and diseases. Whole lung lavages (WLLs) can be helpful to stabilize the clinical course of PAP until the underlying condition is identified, which may enable more specific treatment. Recently, heterozygous OAS1 gain‐of‐function variants were described as cause in patients with infantile‐onset PAP combined with hypogammaglobulinemia.Case presentationAt age 4 months, a female infant born to term was diagnosed with hypogammaglobulinemia and treated with monthly immunoglobulin injections. At age 15 months, the girl needed supplemental oxygen at night, and at age 18 months, also during the day. At age 2 years, PAP of unknown etiology was diagnosed by computed tomography scan and open lung biopsy. Subsequently, monthly WLLs were started, which stabilized the clinical course for over 2 ye...
OAS1-GOF/RNase L–mediated RNA cleavage caused an interferon-induced hyperinflammatory monocyte an... more OAS1-GOF/RNase L–mediated RNA cleavage caused an interferon-induced hyperinflammatory monocyte and B cell immunodeficiency.
ABSTRACT A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in st... more ABSTRACT A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.
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