Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

Kris Ann P. Schultz; Joseph P. Neglia; Angela R. Smith; Hans D. Ochs; Troy R. Torgerson; Ashish Kumar

doi:10.1002/pbc.21573

Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

Kris Ann P. Schultz, Joseph P. Neglia, Angela R. Smith, Hans D. Ochs, Troy R. Torgerson, Ashish Kumar

Research output: Contribution to journal › Article › peer-review

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Abstract

Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

Original language	English (US)
Pages (from-to)	293-295
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	51
Issue number	2
DOIs	https://doi.org/10.1002/pbc.21573
State	Published - Aug 1 2008

Keywords

Adenovirus
Hemophagocytic lymphohistiocytosis
Immunodeficiency
X-linked agammaglobulinemia

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10.1002/pbc.21573

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title = "Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia",

abstract = "Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.",

keywords = "Adenovirus, Hemophagocytic lymphohistiocytosis, Immunodeficiency, X-linked agammaglobulinemia",

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T1 - Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

AU - Schultz, Kris Ann P.

AU - Neglia, Joseph P.

AU - Smith, Angela R.

AU - Ochs, Hans D.

AU - Torgerson, Troy R.

AU - Kumar, Ashish

PY - 2008/8/1

Y1 - 2008/8/1

N2 - Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

AB - Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.

KW - Adenovirus

KW - Hemophagocytic lymphohistiocytosis

KW - Immunodeficiency

KW - X-linked agammaglobulinemia

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Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia

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