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Sara Batalha1, Ana Cordeiro2, Margarida Guimarães3, Tabita Magalhães Maia4, Janet Pereira4, Celeste Bento4, António Figueiredo5, Alexandra Dias5, Conceição Neves2, João Neves2, Paula Kjollerstrom1, Raquel Maia1

1 – Pediatric Hematology Unit, Hospital Dona Estefânia-CHLC, Lisbon
2 – Primary Immunodeficiency Unit, Hospital Dona Estefânia-CHLC, Lisbon
3 – Clinical Pathology Laboratory, Hospital Dona Estefânia-CHLC, Lisbon
4 - Clinical Hematology Unit, Centro Hospitalar e Universitário de Coimbra
5- Pediatric Immuno Hematology, Hosp. Prof. Doutor Fernando Fonseca, Lisbon

ESH-ENERCA Training Course on Diagnosis and Management of Very Rare Red Cell and Iron Disorders, Turcifal, janeiro 2016 (comunicação)

The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of rare disorders characterized by ineffective erythropoiesis and morphological abnormalities of the erythroblasts in the bone marrow. Several types/subtypes and different mutations have been increasingly identified, allowing a better knowledge of its pathophysiology. Nevertheless, immunodeficiency has not been described as an associated feature of these disorders. The authors present the clinical cases of three patients with congenital dyserythropoietic anemia and immunodeficiency. They all present mild/moderated hemolytic anemia (two with macrocytosis), low reticulocyte count for the degree of anemia and in the bone marrow it is possible to observe erythroid hyperplasia and morphological abnormalities of the erythroblasts suggesting CDA. Patient 1 (P1), a 7-year-old boy, was diagnosed in the neonatal period, patient 2 (P2), a 19-year-old male, and patient 3 (P3), a 23-year-old female, were diagnosed at the age of 15 and 2 months, respectively.  P1 and P3 present slight dysmorfic features. Extensive workup excluded other congenital and acquired causes of dyserythropoiesis. In P1 a molecular lesion associated to CDA was identified: a new mutation in the C15orf41 gene (in homozygozity), also present in heterozigosity in both parents (first degree cousins). P2 and P3 have recurrent lower respiratory tract infections, hypogammaglobulinemia and lack specific antibody responses and are under immunoglobulin replacement therapy. The youngest patient (P1) has low IgA and IgM and intact responses to proteic vaccine challenges; he has atopic dermatitis and asthma. The potential association between CDA and immunodeficiency in these patients remains unsolved and will be submitted to discussion.

Palavras-chave: dyserythropoietic anemia, immunodeficiency