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Abnormal B cell count

MedGen UID:
866853
Concept ID:
C4021208
Finding
Synonym: Abnormality of B cell number
 
HPO: HP:0010975

Definition

A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [from HPO]

Conditions with this feature

Ataxia-telangiectasia syndrome
MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
X-linked severe combined immunodeficiency
MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome
The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.
Immunodeficiency 67
MedGen UID:
375137
Concept ID:
C1843256
Disease or Syndrome
Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016). See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).
Predisposition to invasive fungal disease due to CARD9 deficiency
MedGen UID:
347128
Concept ID:
C1859353
Disease or Syndrome
A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.
Immunodeficiency, common variable, 3
MedGen UID:
462088
Concept ID:
C3150738
Disease or Syndrome
Immunodeficiency, common variable, 5
MedGen UID:
462090
Concept ID:
C3150740
Disease or Syndrome
Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.
Immunodeficiency, common variable, 6
MedGen UID:
462091
Concept ID:
C3150741
Disease or Syndrome
Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.
Immunodeficiency 18
MedGen UID:
816457
Concept ID:
C3810127
Disease or Syndrome
Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).
Severe combined immunodeficiency due to LAT deficiency
MedGen UID:
1384124
Concept ID:
C4479588
Disease or Syndrome
IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).
X-linked lymphoproliferative disease due to SH2D1A deficiency
MedGen UID:
1770239
Concept ID:
C5399825
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Combined immunodeficiency due to ZAP70 deficiency
MedGen UID:
1809040
Concept ID:
C5575025
Disease or Syndrome
ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT).
Autoimmune disease, multisystem, infantile-onset, 3
MedGen UID:
1841236
Concept ID:
C5830600
Disease or Syndrome
Infantile-onset multisystem autoimmune disease-3 (ADMIO3) is an autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations (fever, hepatomegaly), and autoimmune cytopenias. Laboratory studies show normal levels of T, B, and NK cells, but CD4+ (see 186940) T cells demonstrate hyperproliferation when stimulated in vitro (Janssen et al., 2022). For a discussion of genetic heterogeneity of ADMIO, see ADMIO1 (615952).

Professional guidelines

PubMed

Sanges S, Germain N, Vignes S, Séguy D, Stabler S, Etienne N, Terriou L, Launay D, Hachulla É, Huglo D, Dubucquoi S, Labalette M, Lefèvre G
J Clin Immunol 2022 Oct;42(7):1461-1472. Epub 2022 Jun 23 doi: 10.1007/s10875-022-01299-1. PMID: 35737255
Ryder CB, Oduro KA, Moore EM
Hum Pathol 2022 Jul;125:108-116. Epub 2022 Apr 25 doi: 10.1016/j.humpath.2022.04.010. PMID: 35472399
Hallek M
Am J Hematol 2017 Sep;92(9):946-965. doi: 10.1002/ajh.24826. PMID: 28782884

Recent clinical studies

Therapy

Papazoglou D, Wang XV, Shanafelt TD, Lesnick CE, Ioannou N, De Rossi G, Herter S, Bacac M, Klein C, Tallman MS, Kay NE, Ramsay AG
Blood 2024 Jan 4;143(1):57-63. doi: 10.1182/blood.2023020554. PMID: 37824808Free PMC Article
Moreno C, Solman IG, Tam CS, Grigg A, Scarfò L, Kipps TJ, Srinivasan S, Mali RS, Zhou C, Dean JP, Szafer-Glusman E, Choi M
Blood Adv 2023 Sep 26;7(18):5294-5303. doi: 10.1182/bloodadvances.2023010236. PMID: 37315225Free PMC Article
Wang H, Tsao ST, Gu M, Fu C, He F, Li X, Zhang M, Li N, Hu HM
J Transl Med 2022 Dec 19;20(1):608. doi: 10.1186/s12967-022-03833-6. PMID: 36536403Free PMC Article
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509
Rawstron AC
Hematology Am Soc Hematol Educ Program 2009:430-9. doi: 10.1182/asheducation-2009.1.430. PMID: 20008229

Prognosis

Yoshizaki A, Fukasawa T, Ebata S, Yoshizaki-Ogawa A, Sato S
Front Immunol 2022;13:938785. Epub 2022 Jul 28 doi: 10.3389/fimmu.2022.938785. PMID: 35967355Free PMC Article
Terwilliger T, Abdul-Hay M
Blood Cancer J 2017 Jun 30;7(6):e577. doi: 10.1038/bcj.2017.53. PMID: 28665419Free PMC Article
Younes M, Dagher GA, Dulanto JV, Njeim M, Kuriakose P
South Med J 2013 Feb;106(2):121-5. doi: 10.1097/SMJ.0b013e3182824cdf. PMID: 23380746
Rawstron AC
Hematology Am Soc Hematol Educ Program 2009:430-9. doi: 10.1182/asheducation-2009.1.430. PMID: 20008229
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Clinical prediction guides

Wu J, Cao Q, Liao J, Li Y, Lu G, Gong F, Lin G, Zhao M
Reprod Sci 2024 Sep;31(9):2783-2793. Epub 2024 Apr 24 doi: 10.1007/s43032-024-01555-2. PMID: 38658490
Zhang Z, Xie X, Cai Y, Liu P, Liu S, Chen R, Wang J, Wang Y, Zhao Y, Zhu Z, Zhang X, Wu J
Parkinsonism Relat Disord 2023 Nov;116:105890. Epub 2023 Oct 11 doi: 10.1016/j.parkreldis.2023.105890. PMID: 37839276
Moeini Shad T, Yousefi B, Amirifar P, Delavari S, Rae W, Kokhaei P, Abolhassani H, Aghamohammadi A, Yazdani R
J Clin Immunol 2021 Jan;41(1):76-88. Epub 2020 Oct 14 doi: 10.1007/s10875-020-00881-9. PMID: 33052516
Linari S, Castaman G
Expert Rev Hematol 2016 Jan;9(1):51-8. Epub 2015 Nov 13 doi: 10.1586/17474086.2016.1112732. PMID: 26565753
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

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