Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.

Journal of clinical immunology - 10 Nov 2025

Ghannam Saja I Abu, Andonie Celina R, Hamadna Tala Mahmoud, Abu-Hilal Lila H, Adwan Rabee S

Abstract excerpt

Combined immunodeficiency due to CARMIL2 mutations is a rare autosomal recessive primary immunodeficiency characterized by impaired T-cell activation and function, leading to diverse clinical manifestations. Fewer than 50 cases have been reported worldwide. We describe the clinical and genetic features of five patients from Palestine with homozygous CARMIL2 mutations, including the first documented case of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Consanguinity
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

Share to Immunologic Deficiency Syndromes

Share to Pedigree

Share to Phenotype

Share to Severe Combined Immunodeficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 41207919
DOI: 10.1007/s10875-025-01956-1
PMCID: PMC12597840

Genes

CARMIL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.PMID 41207919Read ↗

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.Semantic proximity Read ↗

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.Semantic proximity Read ↗

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Semantic proximity Read ↗

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.Semantic proximity Read ↗

[Genetic basis of common variable immunodeficiency: from common to variable].Semantic proximity Read ↗

SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.Semantic proximity Read ↗

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.Semantic proximity Read ↗

Common variable immunodeficiency (CVID): new genetic insight and unanswered questions.Semantic proximity Read ↗

Primary immunodeficiency in Africa - a review.Semantic proximity Read ↗

CVID-8 in a Compound Heterozygous LRBA Mutation Carrier Presenting as Refractory ITP in a Pediatric PatientSemantic proximity Read ↗

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.Semantic proximity Read ↗

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.