A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection

(2020) Stuart G. Tangye et al.   BLOOD

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

(2020) Stuart G. Tangye   HUMAN GENETICS

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

(2019) Thomas Magg et al.   INFLAMMATORY BOWEL DISEASES

A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency

(2019) Faranaz Atschekzei et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

(2019) Alina Kurolap et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

(2019) Maria E. Maccari et al.   CLINICAL IMMUNOLOGY

Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature

(2019) David Kim et al.   Annals of Diagnostic Pathology

Epstein–Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders

(2018) Thomas Magg et al.   Frontiers in Immunology

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

(2018) Anas M. Alazami et al.   Frontiers in Immunology

CARMIL family proteins as multidomain regulators of actin-based motility

(2017) Benjamin C. Stark et al.   MOLECULAR BIOLOGY OF THE CELL

A human immunodeficiency syndrome caused by mutations in CARMIL2

(2017) T. Schober et al.   Nature Communications

Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation

(2016) Mark Parta et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells

(2016) Romain Roncagalli et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Dual T cell– and B cell–intrinsic deficiency in humans with biallelicRLTPRmutations

(2016) Yi Wang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A potential founder variant inCARMIL2/RLTPRin three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

(2016) Hanne S. Sorte et al.   Molecular Genetics & Genomic Medicine

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

CD28 Controls Differentiation of Regulatory T Cells from Naive CD4 T Cells

(2014) F. Guo et al.   JOURNAL OF IMMUNOLOGY

The evolution of cellular deficiency in GATA2 mutation

(2013) R. E. Dickinson et al.   BLOOD

IgA subclass switch recombination in human mucosal and systemic immune compartments

(2013) M Lin et al.   Mucosal Immunology

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

(2013) Yinming Liang et al.   NATURE IMMUNOLOGY

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

(2012) Haifa H Jabara et al.   NATURE IMMUNOLOGY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Innate signals in mucosal immunoglobulin class switching

(2010)   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS