Combined immunodeficiency in a patient with chromosome 1q42.1q42.3 deletion

Abstract

RATIONALE: A number of genetic abnormalities may lead to combined immunodeficiencies. Here, we report a patient who has a constellation of disorders; combined immunodeficiency, dystonia and schizophrenia associated with chromosome 1q42.1q42.3 deletion.METHODS: A 26-year-old Caucasian white male patient presented with recurrent skin infection of Staphlococcus aureus that required multiple courses of antibiotics.. The medical history was remarkable for recurrent upper respiratory infections, allergic rhinitis, atopic dermatitis, dystonia, seizure disorder, schizophrenia, and developmental delay. Physical examination was notable for the presence of normal size lymphoid tissue, diffuse erythematous rash and multiple papulopustular lesions.RESULTS: Laboratory evaluation revealed mild lymphopenia, low serum IgG(516 mg/dL) and IgA(44 mg/dL), normal IgM(95mg/dL) and elevated IgE(110 IU/mL). Antibody responses to pneumococci serotypes and teichoic acid were negative. The number of CD3+ T cells and CD4:CD8 ratio were normal, however, CD19+ B cells were increased and CD3-CD16+CD56+ natural killer cells were decreased. Lymphocyte responses to mitogens(PHA and Con A) and antigens(mumps and tetanus) were low. Chromosomal FISH analysis demonstrated a deletion of Chromosome 1q42.1-42.3.CONCLUSIONS: Chromosome 1q42.1-42.3 region carries the responsible genes for inositol 1,4,5-trisphosphate 3-kinase B and interferon regulatory factor 2 binding protein 2 and also for a number of well-described disorders including schizophrenia, dystonia, seizures, developmental delay, and Chediak-Higashi syndrome. However, no other susceptibility gene in this region for a known combined immunodeficiency has been defined. We conclude that combined immunodeficiency may be associated with micro-deletion of chromosome 1 and elucidation of immunological functions of the genes that reside in this segment would provide insight into genotype-phenotype correlation. RATIONALE: A number of genetic abnormalities may lead to combined immunodeficiencies. Here, we report a patient who has a constellation of disorders; combined immunodeficiency, dystonia and schizophrenia associated with chromosome 1q42.1q42.3 deletion. METHODS: A 26-year-old Caucasian white male patient presented with recurrent skin infection of Staphlococcus aureus that required multiple courses of antibiotics.. The medical history was remarkable for recurrent upper respiratory infections, allergic rhinitis, atopic dermatitis, dystonia, seizure disorder, schizophrenia, and developmental delay. Physical examination was notable for the presence of normal size lymphoid tissue, diffuse erythematous rash and multiple papulopustular lesions. RESULTS: Laboratory evaluation revealed mild lymphopenia, low serum IgG(516 mg/dL) and IgA(44 mg/dL), normal IgM(95mg/dL) and elevated IgE(110 IU/mL). Antibody responses to pneumococci serotypes and teichoic acid were negative. The number of CD3+ T cells and CD4:CD8 ratio were normal, however, CD19+ B cells were increased and CD3-CD16+CD56+ natural killer cells were decreased. Lymphocyte responses to mitogens(PHA and Con A) and antigens(mumps and tetanus) were low. Chromosomal FISH analysis demonstrated a deletion of Chromosome 1q42.1-42.3. CONCLUSIONS: Chromosome 1q42.1-42.3 region carries the responsible genes for inositol 1,4,5-trisphosphate 3-kinase B and interferon regulatory factor 2 binding protein 2 and also for a number of well-described disorders including schizophrenia, dystonia, seizures, developmental delay, and Chediak-Higashi syndrome. However, no other susceptibility gene in this region for a known combined immunodeficiency has been defined. We conclude that combined immunodeficiency may be associated with micro-deletion of chromosome 1 and elucidation of immunological functions of the genes that reside in this segment would provide insight into genotype-phenotype correlation.