has characteristic has characteristic has material basis in germline mutation in RPSA inborn error of immunity hereditary disease familial isolated congenital asplenia https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/6747 https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/asplenia_isolated_congenital https://www.malacards.org/card/familial_isolated_congenital_asplenia NANDO:2200775 SCTID:726708009 asplenia, isolated congenital splenic hypoplasia ICAS MONDO:0010066 OMIM:271400 MEDGEN:151935 asplenia, familial MESH:C563028 hyposplenia, isolated congenital Orphanet:101351 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. GARD:0016944 UMLS:C0685889 congenital disorder of development or morphogenesis