Prevalence of respiratory tract infections, allergies and assessment of humoral immunity within the Malopolska region's cohort of 11- year old children born with extremely low birth weight in comparison with to their term born peers.

BACKGROUND: Children born with extremely low birth weight (ELBW) have more respiratory tract complications during childhood. Little is known about respiratory and allergy problems in ELBW children at the threshold of adolescence. MATERIALS AND METHODS: A follow-up study was conducted at the age of 11 among ELBW children (n=65) and age-matched controls (n=36). The primary outcomes in the study were the occurrence of respiratory and allergy problems and the rate of hospitalization due to respiratory complications at the age of 11 years, assessed with a questionnaire. Secondary outcome variables were serum levels of immunoglobulin classes. RESULTS: ELBW children had more respiratory tract infections (31 vs.11%, p = 0.03), but less allergies (3 vs. 22%, p < 0.01) compared with controls and had lower level of serum tIgE (geometric mean: 46.5 vs. 89.3 kU/l, p = 0.02). The risk factors for the occurrence of respiratory tract disorders in the ELBW group were: low gestational age, need for surfactant therapy and length of ventilatory support in the neonatal period. CONCLUSIONS: ELBW children have more frequent respiratory tract complications, but fewer allergies at the age of 11 years compared with children born at term. Lower respiratory tract problems decrease in ELBW children with age. Respiratory tract infections are not connected with deficiency in humoral immunity.

Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.

Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies associated or not with Omenn syndrome (OS) features. In our patients two different types of variants in RAG1 gene were detected. The first of the mutation was the deletion of AA dinucleotide at position c.256_257 (p.Lys86ValfsTer33), the second gene variant was substitution c.2867T>C (p.Ile956Thr). In Patient 1 we detected that compound heterozygous mutations involved both of the mentioned variants. Whereas, in Patients 2, 3 and 4, we confirmed the presence of the dinucleotide deletion but in a homozygous state. In all described patients, sequence analysis of RAG2 gene did not reveal any nucleotide changes. Our data show that mutation c.256_257delAA in RAG1 gene seems to occur quite frequently in the polish patients with severe combined immunodeficiency and may result in classical OS as well as in severe combined immunodeficiency without clinical and laboratory features of OS when occurred in homozygous state. The same mutation but in heterozygous state, in combination with other mutation in RAG1 gene, may result in incomplete OS.