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List of works by Kimberly Risma

A kindred of children with interstitial lung disease

scientific article published on 01 July 2007

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency

scientific article published on September 2009

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

scientific article

Basiliximab treatment for autoimmune bowel disease in a pediatric heart transplant patient

scientific article published on 16 September 2015

Caustic ingestions mimicking anaphylaxis: case studies and literature review.

scientific article

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

scientific article published on 17 July 2015

Elevated Granzyme B in Cytotoxic Lymphocytes is a Signature of Immune Activation in Hemophagocytic Lymphohistiocytosis ⬇️

scientific article published on March 22, 2013

Elevated Luteinizing Hormone in Prepubertal Transgenic Mice Causes Hyperandrogenemia, Precocious Puberty, and Substantial Ovarian Pathology1 ⬇️

scientific article published on August 1, 1997

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

scientific article published on 01 August 2007

Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function

scientific article

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

scientific article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

scientific article

Hemophagocytic lymphohistiocytosis: updates and evolving concepts

scientific article published on February 2012

Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.

scientific article published on 8 November 2011

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

scientific article published on 31 August 2011

Immune dysregulation in patients with TRNT1 deficiency.

scientific article

Immunodeficiency: a problem with the faucet or the drain?

article published in 2011

Interplay of adaptive th2 immunity with eotaxin-3/c-C chemokine receptor 3 in eosinophilic esophagitis

scientific article published on 01 July 2007

Live cell evaluation of granzyme delivery and death receptor signaling in tumor cells targeted by human natural killer cells

scientific article

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

scientific article published on 23 April 2009

Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency

scientific article published on 19 December 2014

Perforin is a critical physiologic regulator of T-cell activation

scientific article

Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: A reason to screen

scientific article published on 01 January 2010

Pseudoacne of the nasal crease: a new entity?

scientific article published in July 2004

Real-time detection of CTL function reveals distinct patterns of caspase activation mediated by Fas versus granzyme B.

scientific article

Targeted overexpression of luteinizing hormone in transgenic mice leads to infertility, polycystic ovaries, and ovarian tumors.

scientific article

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