Autoimmunity, and Lymphadenopathy

Diseases related with Autoimmunity and Lymphadenopathy

In the following list you will find some of the most common rare diseases related to Autoimmunity and Lymphadenopathy that can help you solving undiagnosed cases.


Top matches:

Low match OKT4 EPITOPE DEFICIENCY


OKT4 EPITOPE DEFICIENCY Is also known as t4 epitope deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Systemic lupus erythematosus
  • Abnormality of the thyroid gland
  • Graves disease


SOURCES: OMIM MENDELIAN

More info about OKT4 EPITOPE DEFICIENCY

Low match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Low match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

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Other less relevant matches:

Low match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY


TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Low match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME


AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Top 5 symptoms//phenotypes associated to Autoimmunity and Lymphadenopathy

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Lymphoma Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Lymphadenopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Lymphoproliferative disorder Lymphopenia Hemolytic anemia Immune dysregulation Elevated erythrocyte sedimentation rate Thrombocytopenia Autoimmune hemolytic anemia Fever Systemic lupus erythematosus Hepatomegaly

Rare Symptoms - Less than 30% cases


Pleural effusion Pneumonia Respiratory tract infection Skin rash Failure to thrive Lymphocytosis Neoplasm B-cell lymphoma Hodgkin lymphoma Rheumatoid arthritis Arthritis Pancytopenia Decreased antibody level in blood Uveitis Combined immunodeficiency Hemophagocytosis Ascites Recurrent aphthous stomatitis Inflammation of the large intestine Stomatitis Eosinophilia Vasculitis Asthma Histiocytosis Pericarditis IgG deficiency Recurrent fungal infections Granulomatosis Pulmonary insufficiency Verrucae Generalized lymphadenopathy Recurrent viral infections Chronic mucocutaneous candidiasis Right ventricular hypertrophy Pulmonary infiltrates Antinuclear antibody positivity Joint swelling Recurrent otitis media Falls Myalgia Arthralgia Abdominal pain Visual loss Increased antibody level in blood Moderate global developmental delay Autoimmune thrombocytopenia Hemiparesis Pericardial effusion Hepatitis Stroke Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Cervical lymphadenopathy Decreased mean platelet volume Serositis Abnormal thrombocyte morphology Visual impairment Alopecia Patent foramen ovale Generalized-onset seizure Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Hemihypertrophy Flushing Neonatal hypoglycemia Truncal obesity Large for gestational age Gynecomastia Overgrowth Hypoglycemic coma Hypoglycemia Hyperhidrosis Seizures T-cell lymphoma Impaired T cell function Aplastic anemia Abnormal T cell morphology Graves disease Abnormality of the thyroid gland Nonketotic hypoglycemia Follicular hyperplasia Recurrent bacterial infections Non-Hodgkin lymphoma Inflammatory abnormality of the skin Ventricular hypertrophy Neutropenia Atrial septal defect Alopecia areata Vitiligo Otitis media Recurrent respiratory infections Diarrhea Lung adenocarcinoma Increased hepatic glycogen content Cellular immunodeficiency Chronic lymphatic leukemia Acute leukemia Hyperthyroidism Neurodegeneration Leukemia Abnormal circulating insulin level Increased circulating free fatty acid level Enlarged tonsils Dysgammaglobulinemia



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