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ZAP70-Related Severe Combined Immunodeficiency

December 1, 2016

ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two.

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New Born Disorders

  • Amino Acidurias
    • Pyruvate Carboxylase Deficiency
    • PKU and Hyperphe
    • TYR III
    • TYR II
    • TYR 1
    • Hypermethioninemia (MET)
    • Homocystinuria
  • Disorders of Immune Function
    • Adenosine Deaminase deficiency (ADA)
    • ZAP70-Related Severe Combined Immunodeficiency
    • X-linked SCID
  • Disorders of Sugar Metabolism
    • GALE
    • GALK 1
    • Classic Galactosemia (GALT)
    • M/SCHADD
  • Disorders of Vitamins & Cofactors
    • Defects of Biopterin Cofactor Biosynthesis / Biopterin Cofactor Regeneration
    • Biotinidase Deficiency (BIOT)
  • Fatty Acid Oxidation and Ketone Disorders
    • VLCAD
    • Trifunctional Protein Deficiency (TFP)
    • LCHAD
    • MCKAT
    • MCAD
    • SCAD
    • CPT II
    • CPT IA
    • CACT
    • CUD
    • BKT
  • Lysomol Storage Diseases
    • Pompe Disease
    • Niemann-Pick Disease
    • Krabbe Disease
    • Gaucher Disease
    • Fabry Disease
  • Organic Acidurias
    • Propionic Acidemia
    • Methylmalonic Acidemia
    • Malonic Academia (MAL)
    • IBD
    • Isovaleric Acidemia
    • GA-II
    • GA-1
    • DE Red
    • 3MGA
    • 2MGB
    • 2M3HBA
    • HMG
    • 3-MCC Deficiency
  • Thyroid/Adrenal/Other Gland Disorders
    • VAR HB
    • Sickle-Haemobglobin C Disease (HB S/C)
    • Cystic Fibrosis (CF)
    • Congenital Hypothyroidism (CH)
    • CAH
    • Congenital Adrenal Hyperplasia
  • Urea Cycle Disorders
    • CIT II
    • Citrullinemia (CIT)
    • Arginase Deficiency (ARG)
    • Argininosuccinic Aciduria (ASA)

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