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

A human immunodeficiency syndrome caused by mutations in CARMIL2

(2017) T. Schober et al.   Nature Communications

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

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

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

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

Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

(2015) Rebeca Pérez de Diego et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2

(2015) M. Hunter Lanier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

(2015) Bandar Al-Saud et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation

(2015) M. Hunter Lanier et al.   MOLECULAR BIOLOGY OF THE CELL

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

Severe combined immunodeficiencies and related disorders

(2015) Alain Fischer et al.   Nature Reviews Disease Primers

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

Combined immunodeficiency: The Middle East experience

(2013) Waleed Al-Herz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CARMIL leading edge localization depends on a non-canonical PH domain and dimerization

(2013) Adam Zwolak et al.   Nature Communications

Defining combined immunodeficiency

(2012) Chaim M. Roifman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

Distinct Roles for CARMIL Isoforms in Cell Migration

(2009) Yun Liang et al.   MOLECULAR BIOLOGY OF THE CELL

The leucine-rich repeat structure

(2008) J. Bella et al.   CELLULAR AND MOLECULAR LIFE SCIENCES