The New England Journal of Medicine published a study on autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare autosomal recessive disorder characterized by multiple endocrine deficiencies, chronic mucocutaneous candidiasis, and ectodermal dystrophy. The study analyzed data from 68 patients with APECED, aged 10 months to 53 years, from 54 families. The clinical manifestations varied, with 63% of patients having three to five components. The most common components were hypoparathyroidism (79%), adrenocortical failure (72%), and gonadal failure (60% in females ≥13 years). Other components included gastric parietal-cell failure, insulin-dependent diabetes mellitus, hypothyroidism, keratopathy, vitiligo, alopecia, hepatitis, and intestinal malabsorption. The disease often presented with oral candidiasis as the initial symptom, followed by other endocrine deficiencies. The study emphasized the importance of lifelong follow-up for early detection of new components. The clinical spectrum of APECED is broad, with some components appearing late in life. The study also highlighted the need for accurate diagnosis and monitoring of patients with APECED, as well as the importance of genetic analysis in understanding the disease's inheritance pattern. Another study in the same issue of the New England Journal of Medicine analyzed the role of HLA-DQ alleles in susceptibility to insulin-dependent diabetes mellitus (IDDM). The study found that the presence of the HLA-DQw1.2 allele was protective against IDDM, while the presence of the HLA-DQw8 allele increased the risk. The study used allele-specific oligonucleotide probes and polymerase chain reaction to analyze 266 patients with IDDM and 203 normal subjects for eight HLA-DQ beta-chain alleles. The findings suggest that the HLA-DQw1.2 allele provides dominant protection against IDDM, while the HLA-DQw8 allele increases the risk. The study also noted that the presence of aspartic acid at position 57 of the DQ beta chain is a strong marker for IDDM susceptibility. The study concluded that complete HLA-DQ typing is necessary for accurate assessment of susceptibility to IDDM.The New England Journal of Medicine published a study on autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare autosomal recessive disorder characterized by multiple endocrine deficiencies, chronic mucocutaneous candidiasis, and ectodermal dystrophy. The study analyzed data from 68 patients with APECED, aged 10 months to 53 years, from 54 families. The clinical manifestations varied, with 63% of patients having three to five components. The most common components were hypoparathyroidism (79%), adrenocortical failure (72%), and gonadal failure (60% in females ≥13 years). Other components included gastric parietal-cell failure, insulin-dependent diabetes mellitus, hypothyroidism, keratopathy, vitiligo, alopecia, hepatitis, and intestinal malabsorption. The disease often presented with oral candidiasis as the initial symptom, followed by other endocrine deficiencies. The study emphasized the importance of lifelong follow-up for early detection of new components. The clinical spectrum of APECED is broad, with some components appearing late in life. The study also highlighted the need for accurate diagnosis and monitoring of patients with APECED, as well as the importance of genetic analysis in understanding the disease's inheritance pattern. Another study in the same issue of the New England Journal of Medicine analyzed the role of HLA-DQ alleles in susceptibility to insulin-dependent diabetes mellitus (IDDM). The study found that the presence of the HLA-DQw1.2 allele was protective against IDDM, while the presence of the HLA-DQw8 allele increased the risk. The study used allele-specific oligonucleotide probes and polymerase chain reaction to analyze 266 patients with IDDM and 203 normal subjects for eight HLA-DQ beta-chain alleles. The findings suggest that the HLA-DQw1.2 allele provides dominant protection against IDDM, while the HLA-DQw8 allele increases the risk. The study also noted that the presence of aspartic acid at position 57 of the DQ beta chain is a strong marker for IDDM susceptibility. The study concluded that complete HLA-DQ typing is necessary for accurate assessment of susceptibility to IDDM.