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 "late onset" symptom

adrenomyeloneuropathy

cadasil

canavan disease

congenital adrenal hyperplasia

cowden syndrome

cutaneous mastocytosis

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

krabbe disease

neonatal adrenoleukodystrophy

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

thoracic outlet syndrome

triple a syndrome

zellweger syndrome

You can validate or delete this automatically detected symptom