Autoimmunity, and Hepatosplenomegaly

Diseases related with Autoimmunity and Hepatosplenomegaly

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Medium match RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE


RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Medium match IMMUNODEFICIENCY 27A; IMD27A


Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

IMMUNODEFICIENCY 27A; IMD27A Is also known as ifngr1 deficiency, autosomal recessive|immunodeficiency 27a, mycobacteriosis, autosomal recessive

Related symptoms:

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 27A; IMD27A

Medium match IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY


Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Hepatosplenomegaly

Symptoms // Phenotype % cases
Lymphadenopathy Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Hemolytic anemia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Fever

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency

Common Symptoms - More than 50% cases


Autoimmune hemolytic anemia

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Thrombocytopenia Increased antibody level in blood Immune dysregulation Pneumonia Lymphoma Elevated erythrocyte sedimentation rate Autoimmune thrombocytopenia Increased IgG level Increased IgM level Iron deficiency anemia Follicular hyperplasia Respiratory tract infection Rheumatoid factor positive Recurrent respiratory infections Vasculitis Diarrhea Decreased lymphocyte apoptosis Antinuclear antibody positivity Lymphoproliferative disorder Uveitis Pancytopenia Decreased antibody level in blood Skin rash

Rare Symptoms - Less than 30% cases


Eosinophilia Urticaria Chronic lung disease Neoplasm Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Autoimmune neutropenia Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Histiocytosis Platelet antibody positive Antineutrophil antibody positivity Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Smooth muscle antibody positivity Leukemia Purpura Lymphocytosis Abnormal lung morphology Petechiae Pulmonary infiltrates Hodgkin lymphoma Lymphopenia Failure to thrive Pleural effusion Hemophagocytosis Alopecia Combined immunodeficiency Ascites Type I diabetes mellitus Diabetes mellitus Inflammatory abnormality of the skin Eczema Hypothyroidism Recurrent bacterial infections Abnormal intestine morphology Chronic diarrhea Abnormal bronchus physiology Respiratory insufficiency Enlarged mesenteric lymph node Salmonella osteomyelitis Hypoplasia of the femoral head Chronic infection Night sweats Abnormality of abdomen morphology Thrombocytosis Psoriasiform dermatitis Thyroiditis IgA deficiency Renal insufficiency Cervical lymphadenopathy Extramedullary hematopoiesis Chronic lymphatic leukemia Generalized edema Multiple myeloma Hepatocellular carcinoma Basal cell carcinoma Glomerulonephritis Hepatitis Carcinoma Edema Hypoalbuminemia Chronic hemolytic anemia Granulocytopenia Recurrent fungal infections Bronchiolitis Decrease in T cell count Villous atrophy Recurrent viral infections Esophagitis Gingivitis Atopic dermatitis Leukocytosis Recurrent upper respiratory tract infections Anorexia Pericardial effusion Juvenile rheumatoid arthritis Nephritis Elevated C-reactive protein level Anterior uveitis Serositis Nephrotic syndrome Gastrointestinal hemorrhage Severe combined immunodeficiency Cerebral palsy Pericarditis Leukoencephalopathy Recurrent pneumonia Bronchiectasis Recurrent urinary tract infections Dysgammaglobulinemia Generalized lymphadenopathy Granulomatosis IgG deficiency Recurrent aphthous stomatitis Joint swelling Reticulocytosis Weight loss Otitis media Monocytosis Stomatitis Cardiac arrest Neutropenia Aplastic anemia Increased B cell count Impaired T cell function T-cell lymphoma Vitiligo Rheumatoid arthritis Alopecia areata Visual impairment Visual loss Abdominal pain Arthralgia Malar rash Myalgia Arthritis Falls Intermediate uveitis



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