Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development

…, MJ Aman, TS Migone, M Noguchi, ML Markert… - Science, 1995 - science.org
Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common
cytokine receptor γ chain (γ c ) gene that encodes a shared, essential component of the …

[HTML][HTML] Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency

…, SE Schiff, RI Schiff, ML Markert… - … England Journal of …, 1999 - Mass Medical Soc
Background Since 1968 it has been known that bone marrow transplantation can ameliorate
severe combined immunodeficiency, but data on the long-term efficacy of this treatment are …

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

RH Buckley, RI Schiff, SE Schiff, ML Markert… - The Journal of …, 1997 - Elsevier
Objective: To determine the relative frequencies of the different genetic forms of severe
combined immunodeficiency (SCID) and whether there are distinctive characteristics of the …

Treatment of adenosine deaminase deficiency with polyethylene glycol–modified adenosine deaminase

…, C Hatem, J Kurtzberg, ML Markert… - … England Journal of …, 1987 - Mass Medical Soc
We treated two children who had adenosine deaminase deficiency and severe combined
immunodeficiency disease by injecting bovine adenosine deaminase modified by conjugation …

The role of the thymus in immune reconstitution in aging, bone marrow transplantation, and HIV-1 infection

BF Haynes, ML Markert, GD Sempowski… - Annual review of …, 2000 - annualreviews.org
The human thymus is a complex chimeric organ comprised of central (thymic epithelial
space) and peripheral (perivascular space) components that functions well into adult life to …

Purine nucleoside phosphorylase deficiency.

ML Markert - Immunodeficiency reviews, 1991 - europepmc.org
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting
for approximately 4% of patients with severe combined immunodeficiency. Thirty-three …

[HTML][HTML] Transplantation of thymus tissue in complete DiGeorge syndrome

ML Markert, A Boeck, LP Hale, AL Kloster… - … England Journal of …, 1999 - Mass Medical Soc
Background The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid
glands, and thymus. In complete DiGeorge syndrome, patients have severely reduced T-…

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

ML Markert, BH Devlin, MJ Alexieff, J Li, EA McCarthy… - Blood, 2007 - ashpublications.org
The purpose of this study was to characterize a large group of infants with complete DiGeorge
anomaly and to evaluate the ability of thymus transplantation to reconstitute immune …

Comel-Netherton syndrome defined as primary immunodeficiency

…, L Monaco-Shawver, G Kleiner, ML Markert… - Journal of Allergy and …, 2009 - Elsevier
BACKGROUND: Mutations in serine protease inhibitor Kazal-type 5 (SPINK5), encoding the
serine protease inhibitor lympho-epithelial Kazal-type 5 related inhibitor (LEKTI), cause …

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017

…, CC Dvorak, N Kapoor, DB Kohn, ML Markert… - …, 2019 - publications.aap.org
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA …