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

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

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

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency syndrome caused by mutations in CARMIL2

(2017) T. Schober et al.   Nature Communications

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

Primary immunodeficiencies

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