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Chapter 51 Congenital Disorders of Lymphocyte Function 723

intracellular metabolism of lymphoid cells towards glycolysis and Fischer A, Notarangelo LD, Neven B, et al: Severe combined immuno-
thereby deranging lymphocyte function and differentiation. deficiencies and related disorders. Nat Rev Dis Primers 1:15061, 2015.
A very similar clinical and laboratory phenotype has been observed Hanna S, Etzioni A: MHC class I and II deficiencies. J Allergy Clin Immunol
in patients with heterozygous mutations of the PIK3R1 gene (encod- 134:269–275, 2014.
ing for the p85α regulatory subunit of PI3K), which permits expres- Kwan A, Abraham RS, Currier R, et al: Newborn screening for severe com-
sion of a mutated p85α protein lacking the p110δ-interacting bined immunodeficiency in 11 screening programs in the United States.
domain. Treatment with rapamycin, to reduce mTOR activation, JAMA 312:729–738, 2014. Erratum in: JAMA 2014;312:2169.
may be beneficial in both conditions. An alternative strategy, cur- Lo B, Fritz JM, Su HC, et al: CHAI and LATAIE: new genetic diseases of
rently under investigation, is based on the use of PI3K inhibitors. CTLA-4 checkpoint insufficiency. Blood 128:1037–1042, 2016.
Notarangelo LD: Combined immunodeficiencies with nonfunctional T
lymphocytes. Adv Immunol 121:121–190, 2014.
SUGGESTED READINGS Oliveira JB: The expanding spectrum of the autoimmune lymphoproliferative
syndromes. Curr Opin Pediatr 25:722–729, 2013.
Albert MH, Notarangelo LD, Ochs HD: Clinical spectrum, pathophysiology Orange JS: Natural killer cell deficiency. J Allergy Clin Immunol 132:515–525,
and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 2013.
18:42–48, 2011. Pai SY, Logan BR, Griffith LM, et al: Transplantation outcomes for severe
Alkhairy OK, Abolhassani H, Rezaei N, et al: Spectrum of Phenotypes combined immunodeficiency, 2000-2009. N Engl J Med 371:434–446,
Associated with Mutations in LRBA. J Clin Immunol 36:33–45, 2014.
2016. Picard C, Al-Herz W, Bousfiha A, et al: Primary Immunodeficiency Diseases:
Bonilla FA, Barlan I, Chapel H, et al: International Consensus Document an Update on the Classification from the International Union of Immu-
(ICON): Common Variable Immunodeficiency Disorders. J Allergy Clin nological Societies Expert Committee for Primary Immunodeficiency
Immunol Pract 4:38–59, 2016. 2015. J Clin Immunol 35:696–726, 2015.
Conley ME, Dobbs AK, Farmer DM, et al: Primary B cell immunodeficiencies: Speckmann C, Doerken S, Aiuti A, et al: etal. A prospective study on the
comparisons and contrasts. Annu Rev Immunol 27:199–227, 2009. natural history of patients with profound combined immunodeficiency:
Coulter TI, Chandra A, Bacon CM, et al: Clinical spectrum and features of An interim analysis. J Allergy Clin Immunol 2016 Sep 19. [Epub ahead
activated phosphoinositide 3-kinase δ syndrome: A large patient cohort of print].
study. J Allergy Clin Immunol 2016 Jul 16. [Epub ahead of print]. Su HC, Jing H, Zhang Q: DOCK8 deficiency. Ann N Y Acad Sci 1246:26–33,
Ferre EM, Rose SR, Rosenzweig SD, et al: Redefined clinical features and 2011.
diagnostic criteria in autoimmune polyendocrinopathy-candidiasis- Verbsky JW, Chatila TA: Immune dysregulation, polyendocrinopathy, enter-
ectodermal dystrophy. JCI Insight 2016 Aug 18. [Epub ahead of print]. opathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of
Feske S: Immunodeficiency due to defects in store-operated calcium entry. heritable autoimmune diseases. Curr Opin Pediatr 25:708–714, 2013.
Ann N Y Acad Sci 1238:74–90, 2011.
Filipovich AH, Chandrakasan S: Pathogenesis of Hemophagocytic Lympho-
histiocytosis. Hematol Oncol Clin North Am 29:895–902, 2015. REFERENCES
Fischer A, Hacein-Bey Abina S, Touzot F, et al: Gene therapy for primary
immunodeficiencies. Clin Genet 88:507–515, 2015. For the complete list of references, log on to www.expertconsult.com.