Failure to thrive, and Combined immunodeficiency

Diseases related with Failure to thrive and Combined immunodeficiency

In the following list you will find some of the most common rare diseases related to Failure to thrive and Combined immunodeficiency that can help you solving undiagnosed cases.

Top matches:

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY Is also known as t-b+ scid due to jak3 deficiency|scid, t cell-negative, b cell-positive, nk cell-negative

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Pneumonia
  • Meningitis
  • Recurrent upper respiratory tract infections


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

Other less relevant matches:

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY Is also known as scid, t cell-negative, b cell-negative, nk cell-positive|scid due to complete rag1/2 deficiency

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Pneumonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 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

SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

Top 5 symptoms//phenotypes associated to Failure to thrive and Combined immunodeficiency

Symptoms // Phenotype % cases
Severe combined immunodeficiency Very Common - Between 80% and 100% cases
Immunodeficiency Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Lymphopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Combined immunodeficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Decreased antibody level in blood Meningitis Agammaglobulinemia Recurrent infections Panhypogammaglobulinemia Decrease in T cell count Hypoplasia of the thymus Fever Hepatomegaly Chronic diarrhea Recurrent otitis media Splenomegaly

Rare Symptoms - Less than 30% cases

Hepatosplenomegaly Skin rash Lymphadenopathy Eczema Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Recurrent urinary tract infections Recurrent fungal infections Autoimmune hemolytic anemia Otitis media Growth delay Hemolytic anemia Anemia Cutaneous anergy Respiratory tract infection Recurrent upper respiratory tract infections Recurrent respiratory infections Malabsorption Autoimmunity Eczematoid dermatitis Protracted diarrhea Cholangitis Viral hepatitis Chronic lymphocytic meningitis Recurrent protozoan infections Arthritis Conjunctivitis B lymphocytopenia Mastoiditis Bronchiectasis Thrombocytopenia Abnormal lung morphology Recurrent viral infections Recurrent pneumonia Leukoencephalopathy Cerebral palsy Increased antibody level in blood Chronic lung disease Immune dysregulation Bronchitis Recurrent bronchitis Choroideremia Humoral immunodeficiency Plethora Chronic oral candidiasis Villous atrophy Recurrent bacterial infections Chronic mucocutaneous candidiasis Cardiac arrest Abnormal intestine morphology Inflammation of the large intestine Bronchiolitis Bronchiolitis obliterans Decreased proportion of CD8-positive T cells Recurrent gastroenteritis Osteomyelitis Respiratory distress Tachycardia Hepatic failure Hepatitis Tachypnea Gastroesophageal reflux Recurrent lower respiratory tract infections Sepsis Cough Abnormality of the lymph nodes Pancytopenia Inflammatory abnormality of the skin Increased body weight Oral ulcer Intestinal obstruction Neutropenia Recurrent candida infections Encephalitis Colitis Recurrent bacterial meningitis


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