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

12 Scopus citations

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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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",

author = "Schultz, {Kris Ann P.} and Neglia, {Joseph P.} and Smith, {Angela R.} and Ochs, {Hans D.} and Torgerson, {Troy R.} and Ashish Kumar",

year = "2008",

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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

Abstract

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