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Hyper-IgM syndrome type 5(HIGM5)

MedGen UID:: 328420
•Concept ID:: C1720958
•: Disease or Syndrome

Synonyms:	HIGM5; Hyper-IgM Immunodeficiency Syndrome, Type 5; Immunodeficiency with hyper IgM type 5

Gene (location): Gene(s) directly associated with this condition or phenotype.	UNG (12q24.11)

Monarch Initiative:	MONDO:0011971
OMIM®:	608106
Orphanet:	ORPHA101092

Definition

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). [from OMIM]

Clinical features

From HPO

Recurrent upper and lower respiratory tract infections

MedGen UID:: 375014
•Concept ID:: C1842777
•: Finding

Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.

See: Feature record | Search on this feature

Epididymitis

MedGen UID:: 4986
•Concept ID:: C0014534
•: Disease or Syndrome

The presence of inflammation of the epididymis.

See: Feature record | Search on this feature

Immunodeficiency

MedGen UID:: 7034
•Concept ID:: C0021051
•: Disease or Syndrome

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

See: Feature record | Search on this feature

Decreased circulating IgA concentration

MedGen UID:: 57934
•Concept ID:: C0162538
•: Disease or Syndrome

Decreased levels of immunoglobulin A (IgA).

See: Feature record | Search on this feature

Lymphadenopathy

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

Enlargement (swelling) of a lymph node.

See: Feature record | Search on this feature

Increased circulating IgM level

MedGen UID:: 333454
•Concept ID:: C1839972
•: Finding

An abnormally increased level of immunoglobulin M in blood.

See: Feature record | Search on this feature

Impaired Ig class switch recombination

MedGen UID:: 374953
•Concept ID:: C1842528
•: Finding

An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.

See: Feature record | Search on this feature

Recurrent bacterial infections

MedGen UID:: 334943
•Concept ID:: C1844383
•: Finding

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

See: Feature record | Search on this feature

Decreased circulating IgG concentration

MedGen UID:: 1720114
•Concept ID:: C5234937
•: Finding

An abnormally decreased level of immunoglobulin G (IgG) in blood.

See: Feature record | Search on this feature

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Abnormality of the immune system
Abnormality of the respiratory system
- Recurrent upper and lower respiratory tract infections

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyper-IgM syndrome type 5

Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
- Hyper-IgM syndrome without susceptibility to opportunistic infections
  - Hyper-IgM syndrome type 5

Follow this link to review classifications for Hyper-IgM syndrome type 5 in Orphanet.

Professional guidelines

PubMed

Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.

Huang S, Niu Y, Li J, Gao M, Zhang Y, Yan J, Ma S, Gao X, Gao Y
J Assist Reprod Genet 2020 Aug;37(8):2025-2031. Epub 2020 Jun 5 doi: 10.1007/s10815-020-01846-y. PMID: 32500460 Free PMC Article

CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives.

França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380

Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment.

Ochs HD
Ann Allergy Asthma Immunol 2008 May;100(5):509-11. doi: 10.1016/S1081-1206(10)60479-6. PMID: 18517086

See all (4)

Recent clinical studies

Etiology

Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center.

Khalili M, Farzi H, Darougar S, Hajijoo F, Mesdaghi M, Mansouri M, Babaie D, Hashemitari A, Eslami N, Chavoshzadeh Z
Iran J Allergy Asthma Immunol 2021 Dec 8;20(6):693-699. doi: 10.18502/ijaai.v20i6.8020. PMID: 34920652

Successful Sequential Liver and Hematopoietic Stem Cell Transplantation in a Child With CD40 Ligand Deficiency and Cryptosporidium-Induced Liver Cirrhosis.

Quarello P, Tandoi F, Carraro F, Vassallo E, Pinon M, Romagnoli R, David E, Dell Olio D, Salizzoni M, Fagioli F, Calvo PL
Transplantation 2018 May;102(5):823-828. doi: 10.1097/TP.0000000000002114. PMID: 29377874

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.

Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, Morio T, Nonoyama S
J Allergy Clin Immunol 2015 Oct;136(4):1018-24. Epub 2015 Mar 31 doi: 10.1016/j.jaci.2015.02.020. PMID: 25840720

Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature.

Karaca NE, Durandy A, Gulez N, Aksu G, Kutukculer N
Eur J Pediatr 2011 Aug;170(8):1039-47. Epub 2011 Jan 28 doi: 10.1007/s00431-011-1400-2. PMID: 21274562

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.

An Y, Xiao J, Jiang L, Yang X, Yu J, Zhao X
Scand J Immunol 2010 Jul;72(1):50-6. doi: 10.1111/j.1365-3083.2010.02406.x. PMID: 20591076

See all (15)

Diagnosis

A Hyper-IgM Syndrome Mutation in Activation-Induced Cytidine Deaminase Disrupts G-Quadruplex Binding and Genome-wide Chromatin Localization.

Yewdell WT, Kim Y, Chowdhury P, Lau CM, Smolkin RM, Belcheva KT, Fernandez KC, Cols M, Yen WF, Vaidyanathan B, Angeletti D, McDermott AB, Yewdell JW, Sun JC, Chaudhuri J
Immunity 2020 Nov 17;53(5):952-970.e11. Epub 2020 Oct 23 doi: 10.1016/j.immuni.2020.10.003. PMID: 33098766 Free PMC Article

Successful Sequential Liver and Hematopoietic Stem Cell Transplantation in a Child With CD40 Ligand Deficiency and Cryptosporidium-Induced Liver Cirrhosis.

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.

Madkaikar M, Gupta M, Chavan S, Italia K, Desai M, Merchant R, Radhakrishnan N, Ghosh K
Blood Cells Mol Dis 2014 Sep;53(3):99-104. Epub 2014 Jun 11 doi: 10.1016/j.bcmd.2014.05.008. PMID: 24929972

Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient.

Tsuge I, Ito K, Ohye T, Kando N, Kondo Y, Nakajima Y, Inuo C, Kurahashi H, Urisu A
Pediatr Pulmonol 2014 Mar;49(3):E52-5. Epub 2013 Sep 18 doi: 10.1002/ppul.22814. PMID: 24106060

Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment.

Ochs HD
Ann Allergy Asthma Immunol 2008 May;100(5):509-11. doi: 10.1016/S1081-1206(10)60479-6. PMID: 18517086

See all (26)

Therapy

X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report.

Huang SH, Meng XY, Bai ZJ, Li Y, Wu SY
J Trop Pediatr 2020 Dec 1;66(6):648-654. doi: 10.1093/tropej/fmaa023. PMID: 32388558

CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives.

França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380

Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience.

Allewelt H, Martin PL, Szabolcs P, Chao N, Buckley R, Parikh S
Pediatr Blood Cancer 2015 Dec;62(12):2216-22. Epub 2015 Aug 20 doi: 10.1002/pbc.25711. PMID: 26291959

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.

Wang LL, Zhou W, Zhao W, Tian ZQ, Wang WF, Wang XF, Chen TX
J Immunol Res 2014;2014:683160. Epub 2014 Aug 20 doi: 10.1155/2014/683160. PMID: 25215306 Free PMC Article

Hyper-IgM syndrome--a case report and a clinical perspective.

Silva R, Da Costa JT
Eur Ann Allergy Clin Immunol 2010 Oct;42(5):194-6. PMID: 21192628

See all (10)

Prognosis

CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives.

França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380

X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Tsai HY, Yu HH, Chien YH, Chu KH, Lau YL, Lee JH, Wang LC, Chiang BL, Yang YH
J Microbiol Immunol Infect 2015 Feb;48(1):113-8. Epub 2012 Sep 24 doi: 10.1016/j.jmii.2012.07.004. PMID: 23010537

Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature.

Karaca NE, Durandy A, Gulez N, Aksu G, Kutukculer N
Eur J Pediatr 2011 Aug;170(8):1039-47. Epub 2011 Jan 28 doi: 10.1007/s00431-011-1400-2. PMID: 21274562

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD
Blood 1998 Oct 1;92(7):2421-34. PMID: 9746782

Serum IgD elevation is an early marker of B cell activation during infection with the human immunodeficiency viruses.

Mizuma H, Zolla-Pazner S, Litwin S, el-Sadr W, Sharpe S, Zehr B, Weiss S, Saxinger WC, Marmor M
Clin Exp Immunol 1987 Apr;68(1):5-14. PMID: 3498566 Free PMC Article

See all (16)

Clinical prediction guides

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.

Wang LL, Zhou W, Zhao W, Tian ZQ, Wang WF, Wang XF, Chen TX
J Immunol Res 2014;2014:683160. Epub 2014 Aug 20 doi: 10.1155/2014/683160. PMID: 25215306 Free PMC Article

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.

Madkaikar M, Gupta M, Chavan S, Italia K, Desai M, Merchant R, Radhakrishnan N, Ghosh K
Blood Cells Mol Dis 2014 Sep;53(3):99-104. Epub 2014 Jun 11 doi: 10.1016/j.bcmd.2014.05.008. PMID: 24929972

Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature.

Karaca NE, Durandy A, Gulez N, Aksu G, Kutukculer N
Eur J Pediatr 2011 Aug;170(8):1039-47. Epub 2011 Jan 28 doi: 10.1007/s00431-011-1400-2. PMID: 21274562

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD
Blood 1998 Oct 1;92(7):2421-34. PMID: 9746782

See all (13)

Recent systematic reviews

AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.

Delplanque M, Galicier L, Oziol E, Ducharme-Bénard S, Oksenhendler E, Buob D, Grateau G, Boutboul D, Georgin-Lavialle S
J Allergy Clin Immunol Pract 2021 Feb;9(2):745-752.e1. Epub 2020 Sep 30 doi: 10.1016/j.jaip.2020.09.023. PMID: 33007500

See all (1)

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Hyper-IgM syndrome type 5(HIGM5)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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