Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

Abstract

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

“…Thus, MIA-CID was a common feature of the 6 patients, as previously reported for other cases (8). A postmortem pathology study revealed hypoplastic thymuses in D3 and E3 (respectively, onetenth and one-third of the thymus size of age-matched controls).…”

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

“…A subgroup of MIA patients also have signs of combined immunodeficiency and are termed multiple intestinal atresia with combined immune deficiency (MIACI) (Moreno et al 1990). MIACI has been described in unrelated families of multiple ethnicities including Saudi, Slavic, Italian, Bosnian, and French-Canadian (Rothenberg et al 1995;Chen et al 2013).…”

Multiple Intestinal Atresia in Two Siblings Born of a Close Consanguineous Marriage: Case Report

“…Bu mul tipl at re zi ti pin de kla sik tip 4 at re zi den fark lı ola rak me zen ter de fek ti gö rül mez. [2][3][4][5][6][7][8][9][10] Li te ratür de yak la şık ola rak 43 ol gu bil di ril miş tir. 10 Ula-şı la bi len li te ra tür ler de ka lıt sal bar sak at re zi li be bek le rin ai le geç mi şin de ak ra ba ev li li ği ol ma sı -na rağ men bi rin ci de re ce den ak ra ba ev li li ğin den do ğan kar deş ler de bar sak at re zi si ne bir li te ra tür de rast lan mış tır.…”

“…9 Bu gün ço ğun luk la ka bul edi len gö rüş hasta lı ğın oto zo mal re se sif ge çiş li ol du ğu yö nün de dir. An cak has ta lı ğın ka lı tım şek li ile il gi li gö rüş bir liği ne va rı la ma mış ve he nüz has ta lı ğa ait spe si fik gen mu tas yo nu bu lu na ma mış tır.…”

“…Kardeşlerde ve akrabalarda nadir de olsa birkaç olgu rapor edilmiştir. [5][6][7][8][9][10] Hastalığın otozomal resesif geçiş-li olduğu düşünülmektedir. 11 Hastalar genellikle postoperatif dönemde kaybedilmektedirler.…”