Severe combined immunodeficiency syndrome associated with colonic stenosis

López‐Herrera, Gabriela; Garibay‐Escobar, Adriana; Alvarez-Zavala, Bertha Judith; Esparza-Garcı́a, Amalia; Galindo-Rujana, M.E.; Flores‐Romo, Leopoldo; Estrada-Garcı́a, Iris; Hernández-Pando, Rogelio; Estrada‐Parra, Sergio; Santos-Argumedo, Leopoldo

doi:10.1016/j.arcmed.2004.04.007

Cited by 5 publications

(1 citation statement)

References 26 publications

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“…Some of these aberrations are unique to the immune system; hence, the patient's symptoms are exclusively those of immune deficiency [Kalman et al, 2004; Buckley 2004]. Alternatively, a genetic defect may cause immune abnormalities in association with defects of other non‐immune organs [Hershfield, 1998; Lopez‐Herrera et al, 2004; Orange et al, 2004]. Inherited immunodeficiency has not been described previously in association with 46,XX gonadal dysgenesis (GD).…”

Section: Introductionmentioning

confidence: 99%

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

Somech

Somers

Chitayat

et al. 2007

American J of Med Genetics Pt A

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Inherited immune deficiencies are a heterogeneous group of diseases that can be either isolated, with the immune defect being the exclusive manifestation, or associated with other abnormalities. We report on two sisters, born to consanguineous parents of Sri-Lankan descent, who presented in infancy with immunodeficiency, gonadal dysgenesis, and fatal lung fibrosis. Immune studies demonstrated combined humoral and cellular abnormalities including reduced immunoglobulin production, an absence of lymphoid tissue, markedly reduced T-lymphocyte numbers and function and reduced newly thymus-derived T-cells. Both infants succumbed to rapidly progressive lung fibrosis. Autopsy showed dysgenetic gonads bearing no discernible oocytes. In both, karyotypes were normal female (46,XX). Comparative genome hybridization and analysis of genes known to be associated with severe immune defects in infancy or gonadal dysgenesis showed no abnormality. The distinct findings in these two sisters have not been reported before and thus suggest a hitherto unknown autosomal recessive condition that includes immune dysfunction, gonadal dysgenesis, and pulmonary fibrosis.

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