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Items: 11

1.

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G.

Cell. 2003 Nov 14;115(4):461-73.

2.

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G.

Br J Haematol. 2002 Jun;117(4):965-72.

PMID:
12060139
3.

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G.

Am J Hum Genet. 2002 Jul;71(1):198-203. Epub 2002 May 24.

4.

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G.

Nat Genet. 2000 Jun;25(2):173-6.

PMID:
10835631
5.

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.

Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, Gross F, Yvon E, Nusbaum P, Selz F, Hue C, Certain S, Casanova JL, Bousso P, Deist FL, Fischer A.

Science. 2000 Apr 28;288(5466):669-72.

6.

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G, Schwarz K, Fischer A, de Saint Basile G.

Blood. 2000 Feb 1;95(3):979-83.

7.

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V.

Science. 1999 Dec 3;286(5446):1957-9.

9.

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.

Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G.

Nat Genet. 1997 Jul;16(3):289-92. Erratum in: Nat Genet 1999 Nov;23(3):373.

PMID:
9207796
10.

The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus.

DiSanto JP, Certain S, Wilson A, MacDonald HR, Avner P, Fischer A, de Saint Basile G.

Eur J Immunol. 1994 Dec;24(12):3014-8.

PMID:
7805729
11.

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

DiSanto JP, Dautry-Varsat A, Certain S, Fischer A, de Saint Basile G.

Eur J Immunol. 1994 Feb;24(2):475-9.

PMID:
8299698

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