Blood cells, molecules & diseases · 2025
Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Ragab Iman, Makkeyah Sara, Hassan Noura, Botros Michael, Da Costa Lydie, Aly Nihal Hussien
Аннотация
BACKGROUND: Diamond-Blackfan anemia Syndrome (DBAS) is a ribosomopathy with erythroid failure. DBA-like picture occurs with non-ribosomal mutation and a normal rRNA maturation. Immunodeficiency in patients with DBAS is not adequately studied. We aimed to study the frequency of infections and immunoglobulins levels in children with DBAS.
METHODS: Children and adolescents with DBAS were included. Infections were scored according to the immunodeficiency related score (IDR). Total serum immunoglobulin A (IgA), IgG and IgM were measured. Molecular studies were done to a group of patients.
RESULTS: Thirty-four patients had a median age at diagnosis of 3.6 month-old. Fourteen (41 %) patients had an IDR score of ≥6, and 4 of them (28.6 %) had low immunoglobulin levels. Patients with IDR score > 6 had significantly lower IgG (471 versus 1057 mg/dl, p = 0,032) and serum IgA (24 versus 98.5 mg/dl, p = 0.015) than IDR < 6 group. We report mortality in 8 (23.5 %) patients, two of them were related to infection. Molecular analyses were performed in 8 probands and 17 relatives (5 families); 7 of the probands carried CECR1/ADA2 gene mutation and one patient carried a pathogenic variant in RPL36 gene.
CONCLUSION: We highlight the presence of underlying immunodeficiency in a group of patients with DBA and DBA-like disease.
METHODS: Children and adolescents with DBAS were included. Infections were scored according to the immunodeficiency related score (IDR). Total serum immunoglobulin A (IgA), IgG and IgM were measured. Molecular studies were done to a group of patients.
RESULTS: Thirty-four patients had a median age at diagnosis of 3.6 month-old. Fourteen (41 %) patients had an IDR score of ≥6, and 4 of them (28.6 %) had low immunoglobulin levels. Patients with IDR score > 6 had significantly lower IgG (471 versus 1057 mg/dl, p = 0,032) and serum IgA (24 versus 98.5 mg/dl, p = 0.015) than IDR < 6 group. We report mortality in 8 (23.5 %) patients, two of them were related to infection. Molecular analyses were performed in 8 probands and 17 relatives (5 families); 7 of the probands carried CECR1/ADA2 gene mutation and one patient carried a pathogenic variant in RPL36 gene.
CONCLUSION: We highlight the presence of underlying immunodeficiency in a group of patients with DBA and DBA-like disease.
Предметные рубрики MeSH
Anemia, Diamond-BlackfanImmunoglobulinsMutationImmunologic Deficiency SyndromesAdenosine DeaminaseRibosomal ProteinsDNA Mutational AnalysisHigh-Throughput Nucleotide SequencingReinfectionChild MortalityKaplan-Meier EstimateHumansMaleFemaleInfant, NewbornInfantChild, PreschoolChildInfant MortalityIntercellular Signaling Peptides and Proteins