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Combined immunodeficiency due to GINS1 deficiency(IMD55)

MedGen UID:: 1799555
•Concept ID:: C5568132
•: Disease or Syndrome

Synonym:	IMMUNODEFICIENCY 55
SNOMED CT:	Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency (1179286007); Combined immunodeficiency due to GINS complex subunit 1 deficiency (1179286007); Combined immunodeficiency due to GINS1 deficiency (1179286007); Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia (1179286007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GINS1 (20p11.21)

Monarch Initiative:	MONDO:0044725
OMIM®:	617827
Orphanet:	ORPHA505227

Definition

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017). [from OMIM]

Clinical features

From HPO

Myelodysplasia

MedGen UID:: 10231
•Concept ID:: C0026985
•: Congenital Abnormality

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.

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Fetal growth restriction

MedGen UID:: 4693
•Concept ID:: C0015934
•: Pathologic Function

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Postnatal growth retardation

MedGen UID:: 395343
•Concept ID:: C1859778
•: Finding

Slow or limited growth after birth.

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Diarrhea

MedGen UID:: 8360
•Concept ID:: C0011991
•: Sign or Symptom

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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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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Recurrent infections

MedGen UID:: 65998
•Concept ID:: C0239998
•: Finding

Increased susceptibility to infections.

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Lymphadenopathy

MedGen UID:: 96929
•Concept ID:: C0497156
•: Disease or Syndrome

Enlargment (swelling) of a lymph node.

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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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Recurrent skin infections

MedGen UID:: 377848
•Concept ID:: C1853193
•: Disease or Syndrome

Infections of the skin that happen multiple times.

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Absent natural killer cells

MedGen UID:: 892985
•Concept ID:: C4073163
•: Finding

Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.

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Abnormal facial shape

MedGen UID:: 98409
•Concept ID:: C0424503
•: Finding

An abnormal morphology (form) of the face or its components.

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Ichthyosis

MedGen UID:: 7002
•Concept ID:: C0020757
•: Disease or Syndrome

An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.

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Dry skin