Autoimmune polyendocrine syndrome differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Autoimmune polyendocrine syndrome}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Autoimmune_polyendocrine_syndrome]]
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{Akshun}}


==Overview==
==Overview==
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple [[endocrine disorders]] such as  [[thymoma]], [[Kearns–Sayre syndrome]], [[POEMS syndrome]], and [[Wolfram syndrome]]. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3.


OR
==Differentiating Autoimmune Polyendocrine Syndrome From Other Diseases==
Different types of autoimmune polyendocrine syndrome should be differentiated from each other. The following table characterizes the differences among various sub-types of APS.<ref name="pmid18322283">{{cite journal |vauthors=Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O |title=Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen |journal=N. Engl. J. Med. |volume=358 |issue=10 |pages=1018–28 |year=2008 |pmid=18322283 |doi=10.1056/NEJMoa0706487 |url=}}</ref><ref name="pmid20123958">{{cite journal |vauthors=Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL |title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I |journal=J. Exp. Med. |volume=207 |issue=2 |pages=291–7 |year=2010 |pmid=20123958 |pmc=2822614 |doi=10.1084/jem.20091983 |url=}}</ref><ref name="AlimohammadiBjörklund2008">{{cite journal|last1=Alimohammadi|first1=Mohammad|last2=Björklund|first2=Peyman|last3=Hallgren|first3=Åsa|last4=Pöntynen|first4=Nora|last5=Szinnai|first5=Gabor|last6=Shikama|first6=Noriko|last7=Keller|first7=Marcel P.|last8=Ekwall|first8=Olov|last9=Kinkel|first9=Sarah A.|last10=Husebye|first10=Eystein S.|last11=Gustafsson|first11=Jan|last12=Rorsman|first12=Fredrik|last13=Peltonen|first13=Leena|last14=Betterle|first14=Corrado|last15=Perheentupa|first15=Jaakko|last16=Åkerström|first16=Göran|last17=Westin|first17=Gunnar|last18=Scott|first18=Hamish S.|last19=Holländer|first19=Georg A.|last20=Kämpe|first20=Olle|title=Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen|journal=New England Journal of Medicine|volume=358|issue=10|year=2008|pages=1018–1028|issn=0028-4793|doi=10.1056/NEJMoa0706487}}</ref><ref name="pmid21574164">{{cite journal |vauthors=Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N |title=Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications |journal=Eur. J. Immunol. |volume=41 |issue=6 |pages=1517–27 |year=2011 |pmid=21574164 |doi=10.1002/eji.201041253 |url=}}</ref><ref name="pmid16741580">{{cite journal |vauthors=Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG |title=Defective regulatory and effector T cell functions in patients with FOXP3 mutations |journal=J. Clin. Invest. |volume=116 |issue=6 |pages=1713–22 |year=2006 |pmid=16741580 |pmc=1472239 |doi=10.1172/JCI25112 |url=}}</ref><ref name="pmid7040622">{{cite journal |vauthors=Powell BR, Buist NR, Stenzel P |title=An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy |journal=J. Pediatr. |volume=100 |issue=5 |pages=731–7 |year=1982 |pmid=7040622 |doi= |url=}}</ref><ref name="pmid18264745">{{cite journal |vauthors=Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD |title=Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED |journal=J. Clin. Immunol. |volume=28 Suppl 1 |issue= |pages=S11–9 |year=2008 |pmid=18264745 |doi=10.1007/s10875-008-9176-5 |url=}}</ref>


[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
{| class="wikitable"
 
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Characterstic
==Differentiating X from other Diseases==
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 1
*[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 2
*[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 3
 
|-
*As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
|style="background:#DCDCDC;" |[[Inheritance]]
 
|[[Autosomal recessive]]
===Preferred Table===
|[[Autosomal dominant]]
{|
|[[X-linked]]
|-style="background: #4479BA; color: #FFFFFF; text-align: center;"
|-
! rowspan="2" |Diseases
|style="background:#DCDCDC;" |[[Gene]](s) involved
! colspan="4" |Laboratory Findings
|[[Autoimmune Regulator|AIRE]] ([[Transcription factor|transcription facto]]<nowiki/>r)
! colspan="4" |Physical Examination
|[[Polygenic]]
! colspan="4" |History and Symptoms
|[[FOXP3]] ([[transcription factor]])
! rowspan="2" |Other Findings
|-
|-style="background: #4479BA; color: #FFFFFF; text-align: center;"
|style="background:#DCDCDC;" |[[HLA]] [[genotype]]
!Lab Test 1
|HLA-D3 and HLA-D4
!Lab Test 2
|HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404
!Lab Test 3
|None
!Lab Test 4
|-
!Physical Finding 1
|style="background:#DCDCDC;" |[[Pathogenesis]]
!Physical Finding 2
|Autoreactive [[T cells]] escape <br>negative selection
!Physical Finding 3
|Unknown
!Physical Finding 4
|
!Finding 1
Defective [[T cell]] regulation leading to [[T cell]]<br>activation and proliferation
!Finding 2
|-
!Finding 3
|style="background:#DCDCDC;" |[[Age of onset]]
!Finding 4
|[[Infancy]]
|[[Infancy]] and adulthood
|[[Neonatal]]
|-
|style="background:#DCDCDC;" |Clinical features<br>(most common)
|
[[Candidiasis]]<br>[[Hypoparathyroidism]]<br>[[Addison's disease|Addison’s disease]]
|
[[Addisons disease|Addison’s disease]]<br>[[Diabetes mellitus type 1|Diabetes mellitus type 1A]]<br>[[Autoimmune thyroiditis]]
|
[[Autoimmune thyroiditis]]<br>[[Neonatal]] [[diabetes]]<br>[[Malabsorption]]
|-
|-
|style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 1
|style="background:#DCDCDC;" |[[Diabetes]]
|style="background: #F5F5F5; padding: 5px;" |
|18%
|style="background: #F5F5F5; padding: 5px;" |
|20-50%
|style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
|>60%
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|-
|-
|style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 2
|style="background:#DCDCDC;" |Other manifestations<br>
|style="background: #F5F5F5; padding: 5px;" |'''↑'''
|[[Hepatitis]], [[malabsorption]], asplenism,<br>[[oophoritis]], [[alopecia]] and [[vitiligo]]<br>
|style="background: #F5F5F5; padding: 5px;" |
|[[Gastritis|Autoimmune gastritis]], [[celiac disease]],<br>[[oophoritis]] and [[vitiligo]]<br>
|style="background: #F5F5F5; padding: 5px;" |
|[[Autoimmune thyroiditis]], [[Hemolytic anemia|haemolytic anemia]],<br>[[thrombocytopenia]] and [[lymphadenopathy]]<br>
|style="background: #F5F5F5; padding: 5px;" |-
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|-
|-
|style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 3
|style="background:#DCDCDC;" |Gender predisposition
|style="background: #F5F5F5; padding: 5px;" |
|Equal in [[males]] and [[females]]
|style="background: #F5F5F5; padding: 5px;" |↓
|[[Females]]>[[males]]
|style="background: #F5F5F5; padding: 5px;" |
|[[Males]] ([[X-linked]])
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|-
|-
|style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 4
|style="background:#DCDCDC;" |[[Immunodeficiency]]
|style="background: #F5F5F5; padding: 5px;" |
|Immunodeficienct
|style="background: #F5F5F5; padding: 5px;" |
|No defined [[immunodeficiency]]
|style="background: #F5F5F5; padding: 5px;" |
|Immunodeficient
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|-
|-
|style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 5
|style="background:#DCDCDC;" |[[Prevalence]]
|style="background: #F5F5F5; padding: 5px;" |
|Rare
|style="background: #F5F5F5; padding: 5px;" |
|Common
|style="background: #F5F5F5; padding: 5px;" |
|Very rare
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|style="background: #F5F5F5; padding: 5px;" |
|}
|}


===Use if the above table can not be made===
Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as [[POEMS syndrome]], Hirata syndrome, [[Kearns–Sayre syndrome]] and [[Wolfram syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref>
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align=center
 
|valign=top|
{| class="wikitable"
|+
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}}
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Addison's disease
! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Similar Features}}
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Type 1 diabetes mellitus
! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Differentiating Features}}
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Hypothyroidism
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present
|-
|style="background:#DCDCDC;" |APS  type 1
|<nowiki>+</nowiki>
|Less common
|Less common
|[[Hypoparathyroidism]]<br>[[Candidiasis]]<br>[[Hypogonadism]]
|-
|style="background:#DCDCDC;" |APS  type 2
| +
| +
| +
|[[Hypogonadism]]<br>[[Malabsorption]]
|-
|style="background:#DCDCDC;" |APS  type 3
|<nowiki>-</nowiki>
| +
|<nowiki>+</nowiki>
|[[Malabsorption]]
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|Differential 1
|style="background:#DCDCDC;" |[[Thymoma]]
| style="padding: 5px 5px; background: #F5F5F5;"|
| +
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;"|
| +
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
|[[Myasthenia gravis]]<br>[[Cushing syndrome]]
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|Differential 2
|style="background:#DCDCDC;" |[[Chromosomal abnormalities]]<br>([[Turner syndrome]],<br>[[Down's syndrome]])
| style="padding: 5px 5px; background: #F5F5F5;"|
| -
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
| +
| style="padding: 5px 5px; background: #F5F5F5;"|
| +
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
|[[Cardiac dysfunction ]]
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|Differential 3
|style="background:#DCDCDC;" |[[Kearns–Sayre syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
| +
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
|[[Myopathy]]<br>[[Hypoparathyroidism]]<br>[[Hypogonadism]]
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|Differential 4
|style="background:#DCDCDC;" |[[Wolfram syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
| +
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
|[[Diabetes insipidus]]<br>[[Optic atrophy]]<br>[[Deafness]]<br>
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|Differential 5
|style="background:#DCDCDC;" |[[POEMS syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
| +
| style="padding: 5px 5px; background: #F5F5F5;"|
|<nowiki>-</nowiki>
* On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
|[[Polyneuropathy]]<br>[[Hypogonadism]]<br>[[Plasma cell dyscrasia|Plasma cell dyscrasias]]
|}
|}



Latest revision as of 20:42, 26 February 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as thymoma, Kearns–Sayre syndrome, POEMS syndrome, and Wolfram syndrome. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3.

Differentiating Autoimmune Polyendocrine Syndrome From Other Diseases

Different types of autoimmune polyendocrine syndrome should be differentiated from each other. The following table characterizes the differences among various sub-types of APS.[1][2][3][4][5][6][7]

Characterstic Autoimmune
polyendocrine syndrome
type 1
Autoimmune
polyendocrine syndrome
type 2
Autoimmune
polyendocrine syndrome
type 3
Inheritance Autosomal recessive Autosomal dominant X-linked
Gene(s) involved AIRE (transcription factor) Polygenic FOXP3 (transcription factor)
HLA genotype HLA-D3 and HLA-D4 HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404 None
Pathogenesis Autoreactive T cells escape
negative selection
Unknown

Defective T cell regulation leading to T cell
activation and proliferation

Age of onset Infancy Infancy and adulthood Neonatal
Clinical features
(most common)

Candidiasis
Hypoparathyroidism
Addison’s disease

Addison’s disease
Diabetes mellitus type 1A
Autoimmune thyroiditis

Autoimmune thyroiditis
Neonatal diabetes
Malabsorption

Diabetes 18% 20-50% >60%
Other manifestations
Hepatitis, malabsorption, asplenism,
oophoritis, alopecia and vitiligo
Autoimmune gastritis, celiac disease,
oophoritis and vitiligo
Autoimmune thyroiditis, haemolytic anemia,
thrombocytopenia and lymphadenopathy
Gender predisposition Equal in males and females Females>males Males (X-linked)
Immunodeficiency Immunodeficienct No defined immunodeficiency Immunodeficient
Prevalence Rare Common Very rare

Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.[8][9][10][11][12]

Disease Addison's disease Type 1 diabetes mellitus Hypothyroidism Other disorders present
APS type 1 + Less common Less common Hypoparathyroidism
Candidiasis
Hypogonadism
APS type 2 + + + Hypogonadism
Malabsorption
APS type 3 - + + Malabsorption
Thymoma + - + Myasthenia gravis
Cushing syndrome
Chromosomal abnormalities
(Turner syndrome,
Down's syndrome)
- + + Cardiac dysfunction
Kearns–Sayre syndrome - + - Myopathy
Hypoparathyroidism
Hypogonadism
Wolfram syndrome - + - Diabetes insipidus
Optic atrophy
Deafness
POEMS syndrome - + - Polyneuropathy
Hypogonadism
Plasma cell dyscrasias

References

  1. Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O (2008). "Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen". N. Engl. J. Med. 358 (10): 1018–28. doi:10.1056/NEJMoa0706487. PMID 18322283.
  2. Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL (2010). "Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I". J. Exp. Med. 207 (2): 291–7. doi:10.1084/jem.20091983. PMC 2822614. PMID 20123958.
  3. Alimohammadi, Mohammad; Björklund, Peyman; Hallgren, Åsa; Pöntynen, Nora; Szinnai, Gabor; Shikama, Noriko; Keller, Marcel P.; Ekwall, Olov; Kinkel, Sarah A.; Husebye, Eystein S.; Gustafsson, Jan; Rorsman, Fredrik; Peltonen, Leena; Betterle, Corrado; Perheentupa, Jaakko; Åkerström, Göran; Westin, Gunnar; Scott, Hamish S.; Holländer, Georg A.; Kämpe, Olle (2008). "Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen". New England Journal of Medicine. 358 (10): 1018–1028. doi:10.1056/NEJMoa0706487. ISSN 0028-4793.
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