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Cellular immunodeficiency

MedGen UID:
344444
Concept ID:
C1855204
Finding
HPO: HP:0005374

Definition

An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCellular immunodeficiency

Conditions with this feature

B-cell chronic lymphocytic leukemia
MedGen UID:
44120
Concept ID:
C0023434
Neoplastic Process
Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012). Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559).
Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Spondyloenchondrodysplasia with immune dysregulation
MedGen UID:
375009
Concept ID:
C1842763
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

Professional guidelines

PubMed

Baroni F, Marraccini C, Merolle L, Piccagli V, Lambertini D, Iori M, Fasano T, Casali E, Spisni A, Baricchi R, Pertinhez TA
Ann Hematol 2018 Oct;97(10):1909-1917. Epub 2018 Jun 7 doi: 10.1007/s00277-018-3386-6. PMID: 29881883
Atzeni F, Bendtzen K, Bobbio-Pallavicini F, Conti F, Cutolo M, Montecucco C, Sulli A, Valesini G, Sarzi-Puttini P
Clin Exp Rheumatol 2008 Jan-Feb;26(1 Suppl 48):S67-73. PMID: 18570757
Gratama JW, Cornelissen JJ
BioDrugs 2003;17(5):325-38. doi: 10.2165/00063030-200317050-00003. PMID: 14498763

Recent clinical studies

Etiology

Shi J, Chen J, Hu L, Ma AHY, Hu H, Wang C, Huang J, Song Q, Qian G
BMC Pulm Med 2023 Jul 27;23(1):277. doi: 10.1186/s12890-023-02578-2. PMID: 37501136Free PMC Article
Kamei K
Pediatr Nephrol 2023 Dec;38(12):3889-3900. Epub 2023 Apr 20 doi: 10.1007/s00467-023-05969-z. PMID: 37076756Free PMC Article
Cutolo M, Seriolo B, Pizzorni C, Secchi ME, Soldano S, Paolino S, Montagna P, Sulli A
Autoimmun Rev 2008 Dec;8(2):153-5. Epub 2008 Aug 12 doi: 10.1016/j.autrev.2008.07.010. PMID: 18703175
Dvorak CC, Cowan MJ
Bone Marrow Transplant 2008 Jan;41(2):119-26. Epub 2007 Oct 29 doi: 10.1038/sj.bmt.1705890. PMID: 17968328
Shannon KM, Ammann AJ
J Pediatr 1985 Feb;106(2):332-42. doi: 10.1016/s0022-3476(85)80320-6. PMID: 2982008

Diagnosis

Shi J, Chen J, Hu L, Ma AHY, Hu H, Wang C, Huang J, Song Q, Qian G
BMC Pulm Med 2023 Jul 27;23(1):277. doi: 10.1186/s12890-023-02578-2. PMID: 37501136Free PMC Article
Guevara-Hoyer K, Fuentes-Antrás J, Calatayud Gastardi J, Sánchez-Ramón S
Immunol Lett 2021 Mar;231:11-17. Epub 2021 Jan 5 doi: 10.1016/j.imlet.2020.12.010. PMID: 33418010
Moffarah AS, Al Mohajer M, Hurwitz BL, Armstrong DG
Microbiol Spectr 2016 Aug;4(4) doi: 10.1128/microbiolspec.DMIH2-0014-2015. PMID: 27726817
Dvorak CC, Cowan MJ
Bone Marrow Transplant 2008 Jan;41(2):119-26. Epub 2007 Oct 29 doi: 10.1038/sj.bmt.1705890. PMID: 17968328
Shannon KM, Ammann AJ
J Pediatr 1985 Feb;106(2):332-42. doi: 10.1016/s0022-3476(85)80320-6. PMID: 2982008

Therapy

Kamei K
Pediatr Nephrol 2023 Dec;38(12):3889-3900. Epub 2023 Apr 20 doi: 10.1007/s00467-023-05969-z. PMID: 37076756Free PMC Article
Liu D, Yuan X, Gao F, Zhao B, Ding L, Huan M, Liu C, Jiang L
Front Immunol 2022;13:899930. Epub 2022 Jul 5 doi: 10.3389/fimmu.2022.899930. PMID: 35865540Free PMC Article
French MA
Clin Infect Dis 2009 Jan 1;48(1):101-7. doi: 10.1086/595006. PMID: 19025493
Cutolo M, Seriolo B, Pizzorni C, Secchi ME, Soldano S, Paolino S, Montagna P, Sulli A
Autoimmun Rev 2008 Dec;8(2):153-5. Epub 2008 Aug 12 doi: 10.1016/j.autrev.2008.07.010. PMID: 18703175
Hadden JW
Int Immunopharmacol 2003 Aug;3(8):1061-71. doi: 10.1016/S1567-5769(03)00060-2. PMID: 12860163

Prognosis

von Metzler I, Campe J, Huenecke S, Raab MS, Goldschmidt H, Schubert R, Rabenau HF, Ciesek S, Serve H, Ullrich E
J Mol Med (Berl) 2022 Mar;100(3):463-470. Epub 2021 Oct 18 doi: 10.1007/s00109-021-02114-x. PMID: 34657968Free PMC Article
Guevara-Hoyer K, Fuentes-Antrás J, Calatayud Gastardi J, Sánchez-Ramón S
Immunol Lett 2021 Mar;231:11-17. Epub 2021 Jan 5 doi: 10.1016/j.imlet.2020.12.010. PMID: 33418010
Wen P, Wei M, Xu YR, Dong L
Jpn J Infect Dis 2020 Jul 22;73(4):282-287. Epub 2020 Mar 26 doi: 10.7883/yoken.JJID.2019.314. PMID: 32213718
Huminer D, Rosenfeld JB, Pitlik SD
Rev Infect Dis 1987 Nov-Dec;9(6):1102-8. doi: 10.1093/clinids/9.6.1102. PMID: 3321360
Friedman AH
Trans Am Ophthalmol Soc 1984;82:447-91. PMID: 6100147Free PMC Article

Clinical prediction guides

Chang R, Duan S, Li S, Zhang P
Thorac Cancer 2021 Nov;12(22):2971-2980. Epub 2021 Sep 17 doi: 10.1111/1759-7714.14157. PMID: 34532982Free PMC Article
Gupta D, Thakral D, Kumar P, Kabra SK, Lodha R, Kumari R, Mohanty SK, Chakraborty S, Bagri N, Mitra DK
Indian J Pediatr 2019 Oct;86(10):885-891. Epub 2019 Jun 8 doi: 10.1007/s12098-019-02971-y. PMID: 31177511
Hadden JW
Int Immunopharmacol 2003 Aug;3(8):1061-71. doi: 10.1016/S1567-5769(03)00060-2. PMID: 12860163
Nezelof C
Histopathology 1992 Dec;21(6):499-511. doi: 10.1111/j.1365-2559.1992.tb00437.x. PMID: 1468748
Shannon KM, Ammann AJ
J Pediatr 1985 Feb;106(2):332-42. doi: 10.1016/s0022-3476(85)80320-6. PMID: 2982008

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