Combined immunodeficiency due to moesin deficiency(IMD50)

MedGen UID:: 1799546
•Concept ID:: C5568123
•: Disease or Syndrome

Synonyms:	Immunodeficiency 50; IMMUNODEFICIENCY 50, X-LINKED RECESSIVE
SNOMED CT:	X-linked moesin-associated immunodeficiency (1179285006); MSN (moesin) related combined immunodeficiency (1179285006); Combined immunodeficiency due to moesin deficiency (1179285006)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	MSN (Xq12)

Monarch Initiative:	MONDO:0010514
OMIM®:	300988
Orphanet:	ORPHA504530

Definition

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016). [from OMIM]

Clinical features

From HPO

Recurrent urinary tract infections

MedGen UID:: 120466
•Concept ID:: C0262655
•: Disease or Syndrome

Repeated infections of the urinary tract.

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Recurrent respiratory infections

MedGen UID:: 812812
•Concept ID:: C3806482
•: Finding

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

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Eczematoid dermatitis

MedGen UID:: 3968
•Concept ID:: C0013595
•: Disease or Syndrome

Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.

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Lymphopenia

MedGen UID:: 7418
•Concept ID:: C0024312
•: Disease or Syndrome

A reduced number of lymphocytes in the blood.

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Neutropenia

MedGen UID:: 163121
•Concept ID:: C0853697
•: Finding

An abnormally low number of neutrophils in the peripheral blood.

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Decreased circulating antibody level

MedGen UID:: 892481
•Concept ID:: C4048270
•: Finding

An abnormally decreased level of immunoglobulin in blood.

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Abnormality of the genitourinary system
- Recurrent urinary tract infections
Abnormality of the immune system
Abnormality of the respiratory system
- Recurrent respiratory infections

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCombined immunodeficiency due to moesin deficiency

Non-SCID combined immunodeficiency
- Combined immunodeficiency due to moesin deficiency

Recent clinical studies

Diagnosis

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Bradshaw G, Lualhati RR, Albury CL, Maksemous N, Roos-Araujo D, Smith RA, Benton MC, Eccles DA, Lea RA, Sutherland HG, Haupt LM, Griffiths LR
Front Immunol 2018;9:420. Epub 2018 Mar 5 doi: 10.3389/fimmu.2018.00420. PMID: 29556235 Free PMC Article

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Therapy

Advances in basic and clinical immunology in 2016.

Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ
J Allergy Clin Immunol 2017 Oct;140(4):959-973. Epub 2017 Aug 19 doi: 10.1016/j.jaci.2017.07.023. PMID: 28826774

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