familial isolated congenital asplenia
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.
MONDO:0003778
inborn error of immunity
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
ICAS
related
asplenia, isolated congenital
related
SPBC685.06 SPAPJ698.02c