U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immune deficiency, familial variable

MedGen UID:
374426
•Concept ID:
C1840266
•
Disease or Syndrome
Synonym: Immune Deficiency, Familial Variable
 
Monarch Initiative: MONDO:0007814
OMIM®: 146830

Clinical features

From HPO
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
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
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

Professional guidelines

PubMed

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
Nature 2020 Jul;583(7814):90-95. Epub 2020 May 6 doi: 10.1038/s41586-020-2265-1. PMID: 32499645Free PMC Article
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B
J Allergy Clin Immunol 2018 Dec;142(6):1932-1946. Epub 2018 May 4 doi: 10.1016/j.jaci.2018.02.055. PMID: 29729943Free PMC Article

Recent clinical studies

Etiology

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.
Ameratunga R, Woon ST, Leung E, Lea E, Chan L, Mehrtens J, Longhurst HJ, Steele R, Lehnert K, Lindsay K
Semin Arthritis Rheum 2024 Apr;65:152387. Epub 2024 Jan 17 doi: 10.1016/j.semarthrit.2024.152387. PMID: 38330740
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ
Clin Immunol 2023 Jan;246:109181. Epub 2022 Nov 8 doi: 10.1016/j.clim.2022.109181. PMID: 36356849
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Family Testing: An Index Case Finding Strategy to Close the Gaps in Pediatric HIV Diagnosis.
Simon KR, Flick RJ, Kim MH, Sabelli RA, Tembo T, Phelps BR, Rosenberg NE, Ahmed S
J Acquir Immune Defic Syndr 2018 Aug 15;78 Suppl 2(Suppl 2):S88-S97. doi: 10.1097/QAI.0000000000001731. PMID: 29994830Free PMC Article
What is the relevance of mental health to HIV/AIDS care and treatment programs in developing countries? A systematic review.
Collins PY, Holman AR, Freeman MC, Patel V
AIDS 2006 Aug 1;20(12):1571-82. doi: 10.1097/01.aids.0000238402.70379.d4. PMID: 16868437Free PMC Article

Diagnosis

Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.
Nunes-Santos CJ, Kuehn HS, Rosenzweig SD
Immunol Allergy Clin North Am 2020 Aug;40(3):461-470. doi: 10.1016/j.iac.2020.04.004. PMID: 32654692Free PMC Article
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
T-cell immunodeficiencies.
Elder ME
Pediatr Clin North Am 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. PMID: 11130995
Ataxia telangiectasia.
Crawford TO
Semin Pediatr Neurol 1998 Dec;5(4):287-94. doi: 10.1016/s1071-9091(98)80007-7. PMID: 9874856

Therapy

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.
Ameratunga R, Woon ST, Leung E, Lea E, Chan L, Mehrtens J, Longhurst HJ, Steele R, Lehnert K, Lindsay K
Semin Arthritis Rheum 2024 Apr;65:152387. Epub 2024 Jan 17 doi: 10.1016/j.semarthrit.2024.152387. PMID: 38330740
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L
Rheumatol Int 2021 Jan;41(1):227-233. Epub 2019 Sep 20 doi: 10.1007/s00296-019-04444-z. PMID: 31541281
Inherited Platelet Disorders: A Modern Approach to Evaluation and Treatment.
Lambert MP
Hematol Oncol Clin North Am 2019 Jun;33(3):471-487. Epub 2019 Apr 2 doi: 10.1016/j.hoc.2019.01.008. PMID: 31030814
What is the relevance of mental health to HIV/AIDS care and treatment programs in developing countries? A systematic review.
Collins PY, Holman AR, Freeman MC, Patel V
AIDS 2006 Aug 1;20(12):1571-82. doi: 10.1097/01.aids.0000238402.70379.d4. PMID: 16868437Free PMC Article

Prognosis

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ
Clin Immunol 2023 Jan;246:109181. Epub 2022 Nov 8 doi: 10.1016/j.clim.2022.109181. PMID: 36356849
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Genetic susceptibility, HIV infection, and the kidney.
Kiryluk K, Martino J, Gharavi AG
Clin J Am Soc Nephrol 2007 Jul;2 Suppl 1:S25-35. doi: 10.2215/CJN.00320107. PMID: 17699508
What is the relevance of mental health to HIV/AIDS care and treatment programs in developing countries? A systematic review.
Collins PY, Holman AR, Freeman MC, Patel V
AIDS 2006 Aug 1;20(12):1571-82. doi: 10.1097/01.aids.0000238402.70379.d4. PMID: 16868437Free PMC Article
T-cell immunodeficiencies.
Elder ME
Pediatr Clin North Am 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. PMID: 11130995

Clinical prediction guides

Appendicular Skeletal Muscle Mass Prediction in People Living With HIV: A Cross-sectional Study.
Dos Santos AP, Navarro AM, da Silva LSL, Erlandson KM, Webel AR, Oliveira V, Abdalla PP, Alves TC, Tasinafo Júnior MF, Venturini ACR, Gomide EBG, Correa Cordeiro JF, de Andrade D, Machado DRL
J Assoc Nurses AIDS Care 2023 May-Jun 01;34(3):270-279. Epub 2023 Mar 14 doi: 10.1097/JNC.0000000000000400. PMID: 36917650
Congenital cytomegalovirus infection in newborns born to HIV-infected mothers.
Prieto LM, Blázquez Gamero D, Rubio Mancha I, Torres Pastor B, Epalza Ibarrondo C, Rojo Conejo P, Ramos Amador JT; Working Group on cCMV in children exposed to HIV
Enferm Infecc Microbiol Clin (Engl Ed) 2022 Dec;40(10):557-561. Epub 2022 Oct 20 doi: 10.1016/j.eimce.2022.03.014. PMID: 36274043
Transfer of antiretroviral drugs into breastmilk: a prospective study from the Swiss Mother and Child HIV Cohort Study.
Aebi-Popp K, Kahlert CR, Crisinel PA, Decosterd L, Saldanha SA, Hoesli I, Martinez De Tejada B, Duppenthaler A, Rauch A, Marzolini C; Swiss Mother and Child HIV Cohort Study (SHCS)
J Antimicrob Chemother 2022 Nov 28;77(12):3436-3442. doi: 10.1093/jac/dkac337. PMID: 36177836Free PMC Article
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
Nature 2020 Jul;583(7814):90-95. Epub 2020 May 6 doi: 10.1038/s41586-020-2265-1. PMID: 32499645Free PMC Article

Recent systematic reviews

Epidemiology of anal human papillomavirus infection and high-grade squamous intraepithelial lesions in 29 900 men according to HIV status, sexuality, and age: a collaborative pooled analysis of 64 studies.
Wei F, Gaisa MM, D'Souza G, Xia N, Giuliano AR, Hawes SE, Gao L, Cheng SH, Donà MG, Goldstone SE, Schim van der Loeff MF, Neukam K, Meites E, Poynten IM, Dai J, Combes JD, Wieland U, Burgos J, Wilkin TJ, Hernandez AL, Iribarren Díaz M, Hidalgo-Tenorio C, Valencia Arredondo M, Nyitray AG, Wentzensen N, Chow EP, Smelov V, Nowak RG, Phanuphak N, Woo YL, Choi Y, Hu Y, Schofield AM, Woestenberg PJ, Chikandiwa AT, Hickey AC, de Pokomandy A, Murenzi G, Péré H, Del Pino M, Ortiz AP, Charnot-Katsikas A, Liu X, Chariyalertsak S, Strong C, Ong JJ, Yunihastuti E, Etienney I, Ferré VM, Zou H, Segondy M, Chinyowa S, Alberts CJ, Clifford GM
Lancet HIV 2021 Sep;8(9):e531-e543. Epub 2021 Jul 30 doi: 10.1016/S2352-3018(21)00108-9. PMID: 34339628Free PMC Article
Understanding the experiences of married Southern African women in protecting themselves from HIV/AIDS: a systematic review and meta-synthesis.
Timba-Emmanuel T, Kroll T, Renfrew MJ, MacGillivray S
Ethn Health 2019 Aug;24(6):623-644. Epub 2017 Jul 27 doi: 10.1080/13557858.2017.1357067. PMID: 28748704
Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.
Similuk MN, Wang A, Lenardo MJ, Erby LH
J Clin Immunol 2016 Feb;36(2):123-33. Epub 2016 Feb 12 doi: 10.1007/s10875-016-0241-1. PMID: 26873708Free PMC Article
Increasing HIV serostatus disclosure in low and middle-income countries: a systematic review of intervention evaluations.
Kennedy CE, Fonner VA, Armstrong KA, O'Reilly KR, Sweat MD
AIDS 2015 Jun;29 Suppl 1(Suppl 1):S7-S23. doi: 10.1097/QAD.0000000000000671. PMID: 26049541Free PMC Article
What is the relevance of mental health to HIV/AIDS care and treatment programs in developing countries? A systematic review.
Collins PY, Holman AR, Freeman MC, Patel V
AIDS 2006 Aug 1;20(12):1571-82. doi: 10.1097/01.aids.0000238402.70379.d4. PMID: 16868437Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...