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Alopecia antibody deficiency

MedGen UID:
1683018
•Concept ID:
C5190867
•
Disease or Syndrome
Synonyms: alopecia antibody deficiency; Ipp Gelfand syndrome; Ipp-Gelfand syndrome; IPP-Gelfand syndrome
SNOMED CT: Alopecia antibody deficiency (783205005); Ipp Gelfand syndrome (783205005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015082
Orphanet: ORPHA1006

Definition

A rare primary immunodeficiency disorder characterised by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinaemia or incomplete antibody deficiency syndrome) manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlopecia antibody deficiency

Professional guidelines

PubMed

Liposomal daunorubicin as treatment for Kaposi's sarcoma.
Petre CE, Dittmer DP
Int J Nanomedicine 2007;2(3):277-88. PMID: 18019828Free PMC Article
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J
J Clin Endocrinol Metab 2002 Jun;87(6):2568-74. doi: 10.1210/jcem.87.6.8564. PMID: 12050215

Recent clinical studies

Etiology

Dostarlimab for Primary Advanced or Recurrent Endometrial Cancer.
Mirza MR, Chase DM, Slomovitz BM, dePont Christensen R, Novák Z, Black D, Gilbert L, Sharma S, Valabrega G, Landrum LM, Hanker LC, Stuckey A, Boere I, Gold MA, Auranen A, Pothuri B, Cibula D, McCourt C, Raspagliesi F, Shahin MS, Gill SE, Monk BJ, Buscema J, Herzog TJ, Copeland LJ, Tian M, He Z, Stevens S, Zografos E, Coleman RL, Powell MA; RUBY Investigators
N Engl J Med 2023 Jun 8;388(23):2145-2158. Epub 2023 Mar 27 doi: 10.1056/NEJMoa2216334. PMID: 36972026
Disseminated Coccidioidomycosis as the First Presentation of a C-Terminal NFKB2 Pathogenic Variant: A Case Report and Review of the Literature.
Pérez Cavazos S, De la Cruz Cruz RA, Castillo Bejarano JI, Vaquera Aparicio DN, Mascareñas de Los Santos AH, Zárate Hernández MDC
Pediatr Infect Dis J 2022 Feb 1;41(2):140-144. doi: 10.1097/INF.0000000000003333. PMID: 34609106
Mucocutaneous Manifestations in Autoimmune Gastritis: A Prospective Case-Control Study.
Gonzalez A, Latorre G, Paredes L, Montoya L, Maquilon S, Shah SC, Espino A, Sabatini N, Torres J, Roa JC, Riquelme A, Kolbach M
Am J Gastroenterol 2021 Dec 1;116(12):2374-2384. doi: 10.14309/ajg.0000000000001501. PMID: 34665156Free PMC Article
Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus.
Al-Mayouf SM, Abanomi H, Eldali A
Int J Rheum Dis 2011 Feb;14(1):81-5. Epub 2010 Nov 9 doi: 10.1111/j.1756-185X.2010.01574.x. PMID: 21303486
Familial Schmidt's syndrome.
Anderson PB, Fein SH, Frey WG 3rd
JAMA 1980 Nov 7;244(18):2068-70. PMID: 7431539

Diagnosis

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.
Mac TT, Castinetti F, Bar C, Julia S, Pasquet M, Romanet P, Saveanu A, Mougel G, Fauquier T, Jullien N, Barlier A, Reynaud R, Brue T
J Neuroendocrinol 2023 Jun;35(6):e13287. Epub 2023 Jun 15 doi: 10.1111/jne.13287. PMID: 37322808
Monogenic lupus with homozygous C4A deficiency presenting as bronchiectasis and immune-mediated thrombocytopenia.
Tak AS, Satapathy J, Jana M, Sinha A, Jat KR, Bagri NK
Rheumatol Int 2022 Aug;42(8):1477-1482. Epub 2021 Jul 21 doi: 10.1007/s00296-021-04943-y. PMID: 34287686
Mucocutaneous Manifestations in Autoimmune Gastritis: A Prospective Case-Control Study.
Gonzalez A, Latorre G, Paredes L, Montoya L, Maquilon S, Shah SC, Espino A, Sabatini N, Torres J, Roa JC, Riquelme A, Kolbach M
Am J Gastroenterol 2021 Dec 1;116(12):2374-2384. doi: 10.14309/ajg.0000000000001501. PMID: 34665156Free PMC Article
Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3.
Sheehan MT, Islam R
Endocr Pract 2009 Mar;15(2):138-42. doi: 10.4158/EP.15.2.138. PMID: 19289325
Antibody deficiency and alopecia.
Ipp MM, Gelfand EW
J Pediatr 1976 Nov;89(5):728-31. doi: 10.1016/s0022-3476(76)80791-3. PMID: 978318

Therapy

Dostarlimab for Primary Advanced or Recurrent Endometrial Cancer.
Mirza MR, Chase DM, Slomovitz BM, dePont Christensen R, Novák Z, Black D, Gilbert L, Sharma S, Valabrega G, Landrum LM, Hanker LC, Stuckey A, Boere I, Gold MA, Auranen A, Pothuri B, Cibula D, McCourt C, Raspagliesi F, Shahin MS, Gill SE, Monk BJ, Buscema J, Herzog TJ, Copeland LJ, Tian M, He Z, Stevens S, Zografos E, Coleman RL, Powell MA; RUBY Investigators
N Engl J Med 2023 Jun 8;388(23):2145-2158. Epub 2023 Mar 27 doi: 10.1056/NEJMoa2216334. PMID: 36972026
Disseminated Coccidioidomycosis as the First Presentation of a C-Terminal NFKB2 Pathogenic Variant: A Case Report and Review of the Literature.
Pérez Cavazos S, De la Cruz Cruz RA, Castillo Bejarano JI, Vaquera Aparicio DN, Mascareñas de Los Santos AH, Zárate Hernández MDC
Pediatr Infect Dis J 2022 Feb 1;41(2):140-144. doi: 10.1097/INF.0000000000003333. PMID: 34609106
A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.
Stanciu AE, Sava F, Toldi G
Gynecol Endocrinol 2018 Apr;34(4):283-285. Epub 2017 Oct 18 doi: 10.1080/09513590.2017.1391775. PMID: 29043872
Liposomal daunorubicin as treatment for Kaposi's sarcoma.
Petre CE, Dittmer DP
Int J Nanomedicine 2007;2(3):277-88. PMID: 18019828Free PMC Article
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP
Hum Mol Genet 2006 Apr 1;15(7):1225-36. Epub 2006 Feb 27 doi: 10.1093/hmg/ddl038. PMID: 16505002

Prognosis

Mucocutaneous Manifestations in Autoimmune Gastritis: A Prospective Case-Control Study.
Gonzalez A, Latorre G, Paredes L, Montoya L, Maquilon S, Shah SC, Espino A, Sabatini N, Torres J, Roa JC, Riquelme A, Kolbach M
Am J Gastroenterol 2021 Dec 1;116(12):2374-2384. doi: 10.14309/ajg.0000000000001501. PMID: 34665156Free PMC Article
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.
Hennig V, Schuh W, Neubert A, Mielenz D, Jäck HM, Schneider H
Orphanet J Rare Dis 2021 Sep 3;16(1):373. doi: 10.1186/s13023-021-02011-z. PMID: 34479575Free PMC Article
Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3.
Sheehan MT, Islam R
Endocr Pract 2009 Mar;15(2):138-42. doi: 10.4158/EP.15.2.138. PMID: 19289325
Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K, Eskelin P, Perheentupa J, Husebye E, Kadota Y, Willcox N
PLoS Med 2006 Jul;3(7):e289. doi: 10.1371/journal.pmed.0030289. PMID: 16784312Free PMC Article
Combined immunodeficiency and reticuloendotheliosis with eosinophilia.
Ochs HD, Davis SD, Mickelson E, Lerner KG, Wedgwood RJ
J Pediatr 1974 Oct;85(4):463-5. doi: 10.1016/s0022-3476(74)80445-2. PMID: 4443853

Clinical prediction guides

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.
Hennig V, Schuh W, Neubert A, Mielenz D, Jäck HM, Schneider H
Orphanet J Rare Dis 2021 Sep 3;16(1):373. doi: 10.1186/s13023-021-02011-z. PMID: 34479575Free PMC Article
Liposomal daunorubicin as treatment for Kaposi's sarcoma.
Petre CE, Dittmer DP
Int J Nanomedicine 2007;2(3):277-88. PMID: 18019828Free PMC Article
Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.
Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K, Eskelin P, Perheentupa J, Husebye E, Kadota Y, Willcox N
PLoS Med 2006 Jul;3(7):e289. doi: 10.1371/journal.pmed.0030289. PMID: 16784312Free PMC Article
Prevalence and clinical presentation of subclinical/silent celiac disease in adults: an analysis on a 12-year observation.
Tursi A, Giorgetti G, Brandimarte G, Rubino E, Lombardi D, Gasbarrini G
Hepatogastroenterology 2001 Mar-Apr;48(38):462-4. PMID: 11379333
Successful bone marrow transplantation in a patient with humoral and cellular immunity deficiency.
Ammann AJ, Meuwissen HJ, Good RA, Hong R
Clin Exp Immunol 1970 Sep;7(3):343-53. PMID: 4394565Free PMC Article

Recent systematic reviews

Lupus anticoagulant hypoprothrombinemia syndrome associated with systemic lupus erythematosus in children: report of two cases and systematic review of the literature.
Pilania RK, Suri D, Jindal AK, Kumar N, Sharma A, Sharma P, Guleria S, Rawat A, Ahluwalia J, Singh S
Rheumatol Int 2018 Oct;38(10):1933-1940. Epub 2018 Aug 11 doi: 10.1007/s00296-018-4127-9. PMID: 30099593

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