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Pancytopenia due to IKZF1 mutations(CVID13)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Immunodeficiency, common variable, 13
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): IKZF1 (7p12.2)
Monarch Initiative: MONDO:0014810
OMIM®: 616873
Orphanet: ORPHA317473


Common variable immunodeficiency-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from OMIM]

Clinical features

From HPO
Acute lymphoid leukemia
MedGen UID:
Concept ID:
Neoplastic Process
Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009). Genetic Heterogeneity of Acute Lymphoblastic Leukemia A susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (613067), which has been mapped to chromosome 7p12.2; and ALL3 (615545), which is caused by mutation in the PAX5 gene (167414) on chromosome 9p.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Recurrent viral infections
MedGen UID:
Concept ID:
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections
MedGen UID:
Concept ID:
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent fungal infections
MedGen UID:
Concept ID:
Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
B lymphocytopenia
MedGen UID:
Concept ID:
An abnormal decrease from the normal count of B cells.
Combined immunodeficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
Decreased circulating antibody level
MedGen UID:
Concept ID:
An abnormally decreased level of immunoglobulin in blood.
Fetal distress
MedGen UID:
Concept ID:
Pathologic Function
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
MedGen UID:
Concept ID:
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Recent clinical studies

Clinical prediction guides

Yilmaz E, Kuehn HS, Odakir E, Niemela JE, Ozcan A, Eken A, Rohlfs M, Cansever M, Gok V, Aydin F, Karakukcu M, Hauck F, Klein C, Unal E, Rosenzweig SD, Patiroglu T
J Pediatr Hematol Oncol 2021 Apr 1;43(3):e351-e357. doi: 10.1097/MPH.0000000000001976. PMID: 33122583Free PMC Article
Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H
J Allergy Clin Immunol 2017 Jul;140(1):223-231. Epub 2016 Dec 6 doi: 10.1016/j.jaci.2016.09.029. PMID: 27939403
Goldman FD, Gurel Z, Al-Zubeidi D, Fried AJ, Icardi M, Song C, Dovat S
Pediatr Blood Cancer 2012 Apr;58(4):591-7. Epub 2011 May 5 doi: 10.1002/pbc.23160. PMID: 21548011Free PMC Article

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