Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

[omenn syndrome]

Cartilage hair hypoplasia (CHH ) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP ) gene . Although its most constant feature is metaphyseal dysplasia with short stature , CHH is associated with extraskeletal defects such as thin hair , anemia , immunodeficiency , and increased incidence of lymphomas . The spectrum of immunologic phenotypes in CHH translates into clinical severity . Whereas T -cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome , humoral immunodeficiency has only rarely been noted in these patients . Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency , clinically resembling common variable immunodeficiency . Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g .68 _69 delinsTT and g .76 C >T ). Despite the late onset of immunodeficiency in the patient , its clinical course was severe , and the patient died 3 years after the first diagnosis .

Diseases
Validation

Diseases presenting "metaphyseal dysplasia" symptom

omenn syndrome

triple a syndrome

This symptom has already been validated