D. General pathology

• CD18 deficiency
  18 October 2005

  ITGB2 deficiency, LFA1 leukocyte adhesion deficiency, leukocyte adhesion deficiency type 1 (LAD1)

• leukocytic activation
  17 October 2005

  leukocyte activation

• neonatal death
  6 September 2005

  References
  The role of the pediatric pathologist as expert witness in a case of neonatal death. Krous HF, Langston C. Pediatr Dev Pathol. 2008 May-Jun;11(3):200-5. PMID: #17990922#

• malignant hyperthermia
  6 September 2005

  Definition: Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat.
  The incidence of MH reactions ranges from 1:5,000 to 1:50,000-100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one (...)

• TRAP
  7 July 2005

  Twin Reversed Arterial Perfusion (TRAP): Vascular anastomoses in placenta.
  Images
  Twin Reversed Arterial Perfusion (TRAP): Vascular anastomoses in placenta. https://twitter.com/mreyesm/status/707687398604464128

• prematurity
  21 June 2005

  preterm infant

• immunodeficiency with hyper-IgM type 1
  25 April 2005

  XHIGM; X-linked hyper-IgM syndrome; HIGM1: CD40L deficiency

• X-linked lymphoproliferative syndrome type 1
  25 April 2005

  XLP1, XLPD, Duncan disease, Purtilo syndrome; X-linked lymphoproliferative disease; familial fatal EBV infection; susceptibility to severe EBV infection; severe infectiosu mononucleosis
  X-linked recessive lymphoproliferative disease.
  Synopsis
  pharyngitis
  EBV-associated lymphoid granulomatosis
  hepatomegaly
  fulminant hepatitis
  liver failure and hepatic encephalopathy
  splenomegaly
  meningitis
  encephalitis
  anemia
  thrombocytopenia
  pancytopenia
  atypical lymphocytosis - (...)

• nucleotide-excision repair diseases
  30 January 2005

  nucleotide-excision repair disorders, NER diseases

• failure to thrive
  10 January 2005

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