Molecular Diagnosis of Severe Combined Immunodeficiency—Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children

Primary Immunodeficiencies: “New” Disease in an Old Country

(2010) Pamela P W Lee et al.   Cellular & Molecular Immunology

More than just SCID—The phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2

(2010) Tim Niehues et al.   CLINICAL IMMUNOLOGY

B-cell function in severe combined immunodeficiency after stem cell or gene therapy: A review

(2010) Rebecca H. Buckley   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: A reason to screen

(2010) Burcin Uygungil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better?

(2010) Andrew R. Gennery et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

(2010) Anne Marie Comeau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Vaccine-Acquired Rotavirus in Infants with Severe Combined Immunodeficiency

(2010) Niraj C. Patel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Systematic Evidence Review of Newborn Screening and Treatment of Severe Combined Immunodeficiency

(2010) E. A. Lipstein et al.   PEDIATRICS

Primary immunodeficiencies: 2009 update

(2009) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management

(2009) Linda M. Griffith et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

(2008) Lawrence R. Shiow et al.   CLINICAL IMMUNOLOGY

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

(2008) Tonya Lebet et al.   GENETICS IN MEDICINE

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

(2008) Anna Villa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS

The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency

(2008) Lawrence R Shiow et al.   NATURE IMMUNOLOGY

Severe combined immunodeficiency: A cohort of 40 patients

(2008) Mehdi Yeganeh et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

(2008) Caner Aytekin et al.   PEDIATRIC TRANSPLANTATION