Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome

Dusica Babovic-Vuksanovic, R. M. Jacobson, Noralane Morey Lindor, C. R. Weiler

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7-dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with Smith-Lemli-Opitz syndrome have frequent infections, particularly of the respiratory tract. Immunodeficiency, however, is not recognized as a part of this metabolic condition. Frequent infections are usually attributed to a decreased patient mobility and reduced respiratory effort secondary to muscular hypotonia and mental retardation, which are often present in affected individuals. We describe a patient with Smith-Lemli-Opitz syndrome and recurrent respiratory infections who was found to have a selective antibody deficiency. The immunological diagnosis was based on an absent immune response to Pneumovax. She also had no immunological response to hepatitis B vaccine and was unable to break down red cells with isoagglutinin B. Therapy with intravenous IgG (IVIG) was initiated. Infections were less severe, although they still occurred in a high frequency after initiation of the IVIG therapy. This finding prompts the need for a higher index of suspicion for an underlying immune deficiency in patients with Smith-Lemli-Opitz syndrome who present with recurrent and chronic infections. Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients.

Original languageEnglish (US)
Pages (from-to)181-186
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number2
DOIs
StatePublished - Jan 2005

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Smith-Lemli-Opitz Syndrome
Antibodies
Infection
Respiratory Tract Infections
Immunoglobulin G
Hepatitis B Vaccines
Pneumococcal Vaccines
Immunologic Tests
Muscle Hypotonia
Intellectual Disability
Therapeutics
Cholesterol
Quality of Life

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. / Babovic-Vuksanovic, Dusica; Jacobson, R. M.; Lindor, Noralane Morey; Weiler, C. R.

In: Journal of Inherited Metabolic Disease, Vol. 28, No. 2, 01.2005, p. 181-186.

Research output: Contribution to journalArticle

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