hyper igm syndrome: a review of 3 cases

hyper igm syndrome (him sx) is a rare congenital primary immunodeficiency that affects males more than females (70%, x-iinked recessive), but there are reports of autosomal recessive and autosomal dominant inheritances. in this study, we review medical histories of 2 affected girls and one affected boy. our 3 cases fulfill clinical and laboratory criteria of this syndrome. their clinical signs include recurrent pyogenic and opportunistic infections especilly in skin, respiratory and gi tracts, case 2 suffered from recurrent urinary tract infections too. case 3 experienced p. carinii pnemonia during a severe neutropenic episode. other signs were 1- autoimmunities as neutropenia, throbocytopenia, coomb's positive hemolytic anemia and chronic parotitis in second case, 2- lymphoid hyperplasia presenting as generalized lymphadenopathies, hepatosplenomegaly and nodular lymphoid hyperplasia of intestine. case 3, the 5 year old boy had an ataxic gait and suffered from recurrent herpetic keratoconjunctivitis and stomatitis. all the cases had very high serum levels of igm (>1000 mg/dl) while other immunoglobulins were low. sm igm -f b lymphocytes were increased in the first two cases and cd40l on tcell of the 3rd case was absent. occurance of this syndrome in girls is a very rare phenomenon. presence of high or normal serum igm level in a hypogammaglobulinemic patient should be a clue for diagnosing this syndrome and could be further confirmed either by studying cd40l/cd40 pathway or through a genetic survey.