Familial splenomegaly syndrome with reduced circulating T helper cells and splenic germinal centre hypoplasia

Mckinley, R.; Kwan, Yiu Lam; Lam‐Po‐Tang, P.R.L.

doi:10.1111/j.1365-2141.1987.tb06159.x

Cited by 6 publications

(2 citation statements)

References 2 publications

(2 reference statements)

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“…McKinley et al [1987] described an autosomal dominant disorder in three members of a family with splenomegaly from infancy, reduced circulating T‐helper cells associated with germinal center hypoplasia in the spleen and lymph nodes. Bone marrow nodular hyperplasia was also a feature in one subject studied.…”

Section: Discussionmentioning

confidence: 99%

An inherited disorder with splenomegaly, cytopenias, and vision loss

Tantravahi¹,

Williams²,

Digre³

et al. 2012

American J of Med Genetics Pt A

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We describe a novel inherited disorder consisting of idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss. This disorder involves three affected patients in a single non-consanguineous Caucasian family, a mother and two daughters, who are half-sisters. All three patients have had splenectomies; histopathology revealed congestion of the red pulp, but otherwise no abnormalities. Electron microscopic studies of splenic tissue showed no evidence for a storage disorder or other ultrastructural abnormality. Two of the three patients had bone marrow examinations that were non-diagnostic. All three patients developed progressive vision loss such that the two oldest patients are now blind, possibly due to a cone-rod dystrophy. Characteristics of vision loss in this family include early chronic optic nerve edema, and progressive vision loss, particularly central and color vision. Despite numerous medical and ophthalmic evaluations, no diagnosis has been discovered.

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Section: Discussionmentioning

confidence: 99%

An inherited disorder with splenomegaly, cytopenias, and vision loss

Tantravahi¹,

Williams²,

Digre³

et al. 2012

American J of Med Genetics Pt A

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“…[16] The cells are clearly of the T lymphocyte subtype as they express CD3 and the α/β T-cell receptor. [23][24][25][26][27] In 1997, a group of patients with similar clinical findings, but without a mutation of the TNFRSF6 gene, were described. It was shown that these mice have a deficient function of Fas due to spontaneous homozygous mutations in the genes coding for Fas (LPR) or FasL (GLD).…”

Section: History Of Alpsmentioning

confidence: 99%

Autoimmune Lymphoproliferative Syndrome

Bosch¹

2003

Pediatric Drugs

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Autoimmune lymphoproliferative syndrome (ALPS) is a childhood disorder characterized by chronic, nonmalignant lymphoproliferation and autoimmunity, most commonly involving cells of hematopoietic origin. Mutations of the tumor necrosis factor receptor super family member 6 (TNFRSF6) gene, coding for the apoptosis-inducing protein Fas (Apo-1, CD95) are involved in the physiopathology of the syndrome, although the complete mechanism by which the syndrome is caused has not yet been unraveled. Although the syndrome has a benign nature, life-threatening complications can demand treatment. Treatment schedules, including corticosteroids, low doses of chemotherapy, granulocyte colony stimulating factor, or splenectomy, have varying results. Treatment with the antimalarial drug pyrimethamine/sulfadoxine (25/500mg per tablet) seems to be a new, well tolerated, and efficient approach, although larger studies will have to demonstrate the true value of this drug in patients with ALPS.

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